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PURPOSE: In some cases of prenatal genetic testing, an ample amount of fetal DNA is needed, to allow for parallel testing (conducting several genetic tests simultaneously). This study investigated the association between amniotic fluid DNA concentration and various factors. We aimed to define the required amount of amniotic fluid to be extracted in amniocentesis, to allow parallel testing throughout gestational weeks. METHODS: DNA concentration was analyzed from amniocentesis samples taken during the years 2016-2022. Sex association was also analyzed in postnatal whole blood samples from a separate cohort. Theoretical minimum volume of amniotic fluid needed to ensure enough DNA for chromosomal microarray analysis and exome sequencing was calculated. RESULTS: We focused our analysis on 2573 samples, which were taken during weeks 17-23 and 30-35. DNA concentrations increased from weeks 17 to 21, with relatively stable concentrations thereafter. Significantly higher DNA concentrations were seen in pregnancies of female fetuses. DNA concentrations in postnatal whole blood samples did not show this association. Across most weeks, the volume needed to extract 2 µg of DNA from 95% of the samples was about 34 ml. CONCLUSION: DNA concentrations in amniotic fluid vary according to gestational age and are higher in pregnancies of female fetuses. This should be considered when determining the volume of fluid extracted and the timing of amniocentesis, with greater volumes needed in earlier stages of pregnancy.
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INTRODUCTION: OpenAI's GPT-4 (artificial intelligence [AI]) is being studied for its use as a medical decision support tool. This research examines its accuracy in refining referrals for fetal echocardiography (FE) to improve early detection and outcomes related to congenital heart defects (CHDs). METHODS: Past FE data referred to our institution were evaluated separately by pediatric cardiologist, gynecologist (human experts [experts]), and AI, according to established guidelines. We compared experts and AI's agreement on referral necessity, with experts addressing discrepancies. RESULTS: Total of 59 FE cases were addressed retrospectively. Cardiologist, gynecologist, and AI recommended performing FE in 47.5%, 49.2%, and 59.0% of cases, respectively. Comparing AI recommendations to experts indicated agreement of around 80.0% with both experts (p < 0.001). Notably, AI suggested more echocardiographies for minor CHD (64.7%) compared to experts (47.1%), and for major CHD, experts recommended performing FE in all cases (100%) while AI recommended in majority of cases (90.9%). Discrepancies between AI and experts are detailed and reviewed. CONCLUSIONS: The evaluation found moderate agreement between AI and experts. Contextual misunderstandings and lack of specialized medical knowledge limit AI, necessitating clinical guideline guidance. Despite shortcomings, AI's referrals comprised 65% of minor CHD cases versus experts 47%, suggesting its potential as a cautious decision aid for clinicians.
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INTRODUCTION: During the last decades, a major achievement was reported in detecting Down's syndrome in the first trimester of pregnancy. This is attributed to the use of high-resolution accurate ultrasound machine allowing the detection of a "nuchal translucency" in the back of the fetus during 11-14 weeks' gestation. This is considered to be a physiologic finding, but when increased, may alert for chromosomal abnormality (mainly Down's syndrome), cardiac and other organ anomalies and other genetic syndromes. Later additional sonographic findings were found, including nasal bone assessment, and Doppler flow studies of the ductus venosus and tricuspid regurgitation Technology advancement accompanied by sonographers' skills enhancement allows (at the time frame of the nuchal scan) a detailed anomaly scan. Additional screening for pregnancy complication was achieved using first trimester multi marker assessment, alerting for preeclamptic toxemia or placenta accreta. Currently, many national and international professional organizations recommend performing the nuchal scan concurrent with an early anomaly scan both at the same time of gestation. This approach is different than the one performed in Israel, whereas the nuchal scan is conducted separately and 2-3 weeks later an anomaly scan is offered. We call for reconsideration of the sequential approach and performing all the tests in a comprehensive first trimester clinic.
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Síndrome de Down , Medida de Translucencia Nucal , Embarazo , Femenino , Humanos , Síndrome de Down/diagnóstico por imagen , Primer Trimestre del Embarazo , Feto , Edad Gestacional , Ultrasonografía PrenatalRESUMEN
INTRODUCTION: Determination of the fetal gender in the first trimester is important in twin pregnancy cases of familial X-linked genetic syndromes and helps determine chorionicity. We assessed and compared the accuracy of first-trimester ultrasound scans, and cell-free fetal DNA (CfDNA) in determining fetal gender in the first trimester of twin pregnancies. METHODS: Women with twin pregnancies were recruited prospectively during the first trimester. Fetal gender was determined using both ultrasound scans and CfDNA screening. Both results were compared to the newborn gender after delivery. RESULTS: A total of 113 women with twin pregnancies were enrolled. There was 100% sensitivity and specificity in Y chromosome detection using CfDNA. Gender assignment using ultrasound in any first-trimester scans was 79.7%. Accuracy level increased from 54.2% in CRL 45-54 mm to 87.7% in CRL 55-67 mm and 91.5% in CRL 67-87 mm. Male fetuses had significantly higher chances of a gender assignment error compared to female fetuses, odds ratio = 23.574 (CI 7.346 - 75.656). CONCLUSIONS: CfDNA is highly sensitive and specific in determining the presence of the Y chromosome in twin pregnancies in the first trimester. Between CRL 55-87 mm, ultrasound scanning offers a highly accurate determination of fetal gender in twin pregnancies.
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Ácidos Nucleicos Libres de Células , Pruebas Prenatales no Invasivas , Ultrasonografía Prenatal , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Largo Cráneo-Cadera , Primer Trimestre del Embarazo , Embarazo Gemelar , Estudios Prospectivos , Estudios Retrospectivos , Ultrasonografía Prenatal/métodosRESUMEN
BACKGROUND: Fetal facial clefts are among the most common congenital anomalies detected prenatally. This finding may lead to termination of pregnancy in some cases. OBJECTIVES: To compare a cohort of fetuses with facial clefts in which the pregnancy was terminated to the cohort of cases that were born with facial clefts. To investigate risk factors for facial clefts. METHODS: We conducted a retrospective chart review of all women with prenatal and postnatal diagnosis of facial cleft that were managed in our institute. A telephone questionnaire was conducted regarding a positive family history and/or genetic predisposition for facial clefts abnormalities. RESULTS: The final cohort consisted of two group. One group included 54 cases of termination of pregnancy (TOP) that were performed due to cleft lip (CL) or cleft palate (CLP); 27 women answered the telephone questionnaire. The second group comprised 99 women who delivered children with facial cleft during the same period; 60 answered the questionnaire. Only seven cases were diagnosed prenatal. Among the two groups, no correlation to family history was discovered. Of note, there was one case of three consecutive fetuses with CL in one woman, without any significant genetic findings. CONCLUSIONS: To the best of our knowledge, this is the first study to describe an anatomical malformation posing an ethical dilemma before TOP. Primary prevention with folic acid and early sonographic detection of CL/CLP with multidisciplinary consultation should be considered.
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Aborto Inducido , Labio Leporino , Fisura del Paladar , Embarazo , Niño , Humanos , Femenino , Estudios Retrospectivos , Ultrasonografía Prenatal , Fisura del Paladar/diagnóstico , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Labio Leporino/diagnóstico , Labio Leporino/epidemiología , Labio Leporino/genéticaRESUMEN
OBJECTIVE: To evaluate the incidence of chromosomal aberrations and the clinical outcomes following the prenatal diagnosis of isolated perimembranous ventricular septal defect (pVSD). METHODS: This retrospective study was composed of a cohort of pregnant women whose fetuses were diagnosed with isolated pVSD. Complete examinations of the fetal heart were performed, as well as a postnatal validation echocardiography follow-up at 1 year of age. The collected data included: spontaneous closure of the pVSD, need for intervention, chromosomal aberrations and postnatal outcome. RESULTS: Fifty-five pregnant women were included in the study. 34/55 (61.8%) of the fetuses underwent prenatal genetic workup which revealed no abnormal results. No dysmorphic features or abnormal neurological findings were detected postnatally in those who declined a prenatal genetic workup during the follow-up period of 2 years. In 25/55 of the cases (45.4%), the ventricular septal defects (VSD) closed spontaneously in utero, whereas in 17 cases of this group (30.9%) the VSD closed during the first year of life. None of the large 3 VSDs cases (>3 mm), closed spontaneously. CONCLUSION: Prenatally isolated perimembranous VSD has a favorable clinical outcome when classified as small-to-moderate size, children in our cohort born with such findings had no macroscopic chromosomal abnormalities.
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Defectos del Tabique Interventricular , Ultrasonografía Prenatal , Niño , Aberraciones Cromosómicas , Femenino , Corazón Fetal , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/genética , Humanos , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/métodosRESUMEN
BACKGROUND: Suspicion of retained products of conception (RPOC) often arises after delivery and still poses a diagnostic and management challenge. PURPOSE: To prospectively evaluate a sonographic classification for the management of patients with suspected RPOC after delivery. MATERIAL AND METHODS: Based on grayscale and Doppler ultrasound parameters, patients were classified into high, moderate, or low probability of RPOC. For the low and moderate probability groups, an ultrasound follow-up at the end of the puerperium was recommended. For the high probability group, a follow-up examination was conducted 10-14 days after the first ultrasound, and patients with persistent high probability findings were referred for surgical intervention. RESULTS: The sample was composed of 215 patients at risk of RPOC. Of these, 100, 93, and 22 patients were classified as having a low, moderate, or high probability of RPOC, respectively. Rates of RPOC were 55%, 2%, and 2% in the high, moderate, and low probability categories, respectively. When the categorization was based on the most recent ultrasound obtained during the puerperium, the adjusted RPOC prevalence rates were 71% in the high, 6% in the moderate, and 0% in the low probability groups. CONCLUSION: This study confirms the effectiveness of our sonographic classification for managing patients with suspected RPOC after delivery. In all three categories, it is recommended to adhere to a conservative management protocol in clinically stable women until the end of the puerperium. This approach provides good predictability for RPOC and can reduce unnecessary surgical interventions.
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Retención de la Placenta/diagnóstico por imagen , Ultrasonografía , Adulto , Enfermedades Asintomáticas , Decidua/diagnóstico por imagen , Endometrio/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Retención de la Placenta/clasificación , Retención de la Placenta/epidemiología , Retención de la Placenta/cirugía , Periodo Posparto , Embarazo , Prevalencia , Probabilidad , Estudios Prospectivos , Útero/diagnóstico por imagen , Adulto JovenRESUMEN
PURPOSE: In this study, we aimed to assess the distribution of genetic abnormalities leading to termination of pregnancy and its fluctuation during the past 8 years in light of those technical advances. METHODS: Our cohort consisted of all pregnant women who underwent termination of pregnancy because of genetic aberrations in their fetuses from January 2010 through April 2018 in our medical center. The information that was gathered included: maternal age, results of the nuchal scan, results of the first- and second-trimester biochemical screening, ultrasonographic findings, reasons for conducting a genetic evaluation, gestational age at which termination of pregnancy was carried out, and the type of genetic aberration. RESULTS: 816 women underwent termination of pregnancy at our institution due to genetic aberrations, most of them because of positive biochemical screening (n = 297, 36%) or because of maternal anxiety (n = 283, 35%). Findings in chromosomal microarray led to termination of pregnancy in 100 women (100/816, 12%). Chromosomal microarray had been performed due to maternal choice and not because of accepted medical indications among most of the women who underwent termination of pregnancy due to findings on chromosomal microarray (69/100, 69%). CONCLUSION: Performing chromosomal microarray on a structurally normal fetus and identifying abnormal copy number variants may give the parents enough information for deciding on the further course of the pregnancy.
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Aborto Inducido/métodos , Pruebas Genéticas/métodos , Ultrasonografía Prenatal/métodos , Adulto , Femenino , Humanos , Persona de Mediana Edad , Embarazo , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Chromosomal microarray analysis is standard of care in fetuses with malformations, detecting clinically significant copy number variants in 5-7% of cases over conventional karyotyping. However, it also detects variants of uncertain significance in 1.6-4.2% of the cases, some of which are low-penetrance neuro-susceptibility loci. The interpretation of these variants in pregnancy is particularly challenging because the significance is often unclear and the clinical implications may be difficult to predict. OBJECTIVE: The purpose of this study was to describe counseling dilemmas regarding low-penetrance neuro-susceptibility loci that are detected by prenatal chromosomal microarray analysis. STUDY DESIGN: During the study period (January 2014 to December 2015), 700 prenatal chromosomal microarray analyses were performed. Cases were categorized as "indicated" (n=375) if there were abnormal sonographic findings or suggestive medical history and "patient choice" (n=325) in the presence of a structurally normal fetus with no other particular indication. The laboratory reported on copy number variants ≥400 Kb in size in loci known to be associated with genetic syndromes and ≥1 Mb in other areas of genome. Results were classified as gross aneuploidy, copy number variants, and normal. Copy number variants were categorized according to the American College of Medical Genetics standards and guidelines: pathogenic, variants of uncertain significance, or benign. Variants of uncertain significance were further subdivided into categories of likely pathogenic, variants of uncertain significance with no subclassification, and likely benign. Statistical analysis was performed with the use of Chi square test and Fisher's exact test to compare intergroup differences in incidence of the different result categories and demographic data. RESULTS: Patient choice cases became more prevalent with time (35.5% in the beginning of the study, compared with 48.4% at the end of the study period). Clinically significant copy number variants were found in 14 of 375 (3.7%) of indicated cases vs only 2 of 325 (0.6%) of patient choice cases (P=.009). All "likely benign" variants consisted of low-penetrance neuro-susceptibility loci. The incidence thereof was similar between the indicated and patient choice groups (3.7% vs 3.4%; P=.85). In the indicated group, some variants of uncertain significance may have contributed to the abnormal anatomic findings. Conversely, in the patient choice group, the finding of low-penetrance neuro-susceptibility loci was often unexpected and confounding for prospective parents. CONCLUSION: Prenatal chromosomal microarray analysis added clinically significant information in both groups. However, it also detected low-penetrance neuro-susceptibility loci in approximately 3.5% of the cases. This fact should be conveyed during pretest counseling to allow patients to make informed choices, particularly when chromosomal microarray is to be performed for patient choice.
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Aberraciones Cromosómicas , Trastornos de los Cromosomas/diagnóstico , Asesoramiento Genético/ética , Análisis por Micromatrices , Enfermedades del Sistema Nervioso/diagnóstico , Penetrancia , Diagnóstico Prenatal/ética , Adulto , Trastornos de los Cromosomas/genética , Variaciones en el Número de Copia de ADN , Toma de Decisiones/ética , Femenino , Asesoramiento Genético/métodos , Marcadores Genéticos , Humanos , Enfermedades del Sistema Nervioso/congénito , Enfermedades del Sistema Nervioso/genética , Participación del Paciente , Embarazo , Diagnóstico Prenatal/métodos , Relaciones Profesional-Paciente/ética , Revelación de la Verdad/ética , IncertidumbreRESUMEN
INTRODUCTION: In the western world, pre-eclampsia, diagnosed in 3-5% of pregnant women, is a major cause of maternal and fetal morbidity and mortality. Once pre-eclampsia is diagnosed, the only effective treatment is delivery. There are known historical risk factors for the development of pre-eclampsia, however only 30% of the women who will develop pre-eclampsia are identified based on their presence. Recently, new first trimester algorithms for the prediction of pre-eclampsia were developed, based on the observation that pregnant women who develop pre-eclampsia have imbalanced placental angiogenic factors and that failure of the trophoblastic migration may change the flow in the uterine arteries. These algorithms include maternal history and demographics, biochemical and clinical markers (mean arterial pressure, uterine artery flow PLGF, PAPP-A, PP-13). The combination of early diagnosis of a high risk group together with promising evidence that simple preventive measures, such as low-dose aspirin and calcium supplements may prevent pre-eclampsia or change its appearance leads to the idea that we are on the verge of a new era regarding detection and prevention of pre-eclampsia.
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Biomarcadores/análisis , Preeclampsia/diagnóstico , Primer Trimestre del Embarazo , Diagnóstico Precoz , Femenino , Humanos , Preeclampsia/etiología , Embarazo , Proteína Plasmática A Asociada al Embarazo , Arteria UterinaRESUMEN
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule. He did not meet consensus criteria for the clinical diagnosis of TSC. Exome sequencing revealed a heterozygous TSC2 mutation (c.5138G>A (p.Arg1713His)) in the patient. This heterozygous alteration was detected in his mother as well as several other maternal family members. The mother and other family members with the mutation were asymptomatic except for the presence of hypopigmented macules. The phenotypic characteristics of the individuals in this family were not suggestive of a TSC2 mutation as none satisfied the clinical criteria for even a diagnosis of possible TSC. This case provides evidence for a unique TSC2 mutation that resulted in an atypical clinical presentation and indicates potential shortcomings of the current diagnostic criteria for TSC. These findings may have implications for genetic counseling and screening. © 2017 Wiley Periodicals, Inc.
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Estudios de Asociación Genética , Mutación , Fenotipo , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Alelos , Biomarcadores , Análisis Mutacional de ADN , Diagnóstico por Imagen , Electroencefalografía , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Linaje , Proteína 2 del Complejo de la Esclerosis TuberosaRESUMEN
OBJECTIVES: The objective of this study is to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray, except for 2 samples for which only karyotype and fluorescence in situ hybridization for 22q11.2 deletions were performed. RESULTS: Of the 55 women who underwent amniocentesis, 5 were detected with trisomy 21 (9.1%), all of whom had additional ultrasound findings. Among the 14 fetuses with ARSA and additional ultrasound findings, the incidence of trisomy 21 was 35.7%. In fetuses with isolated ARSA, no chromosomal aberrations were detected by standard cytogenetic analysis and only one (1.9%) deleterious copy number variants (CNV) was detected by chromosomal microarray. CONCLUSION: Aberrant right subclavian artery with additional ultrasound findings constitute a strong predictor for aneuploidy. However, when ARSA is found in isolation, it confers no increased risk for aneuploidy or pathogenic CNVs. © 2017 John Wiley & Sons, Ltd.
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Aneurisma/genética , Anomalías Cardiovasculares/genética , Síndrome de DiGeorge/diagnóstico por imagen , Arteria Subclavia/anomalías , Aneurisma/diagnóstico por imagen , Anomalías Cardiovasculares/diagnóstico por imagen , Femenino , Humanos , Embarazo , Arteria Subclavia/diagnóstico por imagen , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: To investigate maternal serum inhibin as a marker of pre-eclampsia (PE) in twins. METHODS: One hundred forty-three twins and 109 unaffected singleton pregnancies were recruited in the first trimester from the same institution. Blood samples were stored at recruitment and in the second trimester, retrospectively tested for inhibin and values expressed in multiples of the gestation-specific median (MoMs) in singletons, adjusted for maternal weight, as appropriate. RESULTS: The median inhibin level in unaffected twins was 2.04 MoM compared with 1.00 MoM in singletons (P < 0.0001, Wilcoxon Rank Sum Test, one-tailed). Excluding early fetal losses the median in 22 samples from 12 twins with PE was 2.65 MoM compared with 1.99 MoM in 201 samples from 120 unaffected twins (P < 0.02, Wilcoxon Rank Sum Test). This effect was restricted to second trimester samples with medians in cases and controls of 2.86 and 1.91 MoM respectively. Logistic regression of inhibin A together with established PE marker placental growth factor and placental associated plasma protein showed that in the second trimester, it improved screening performance although not reaching statistical significance (P = 0.08). CONCLUSIONS: Inhibin A is a potential second trimester marker of PE in twins. It may improve on existing twin screening protocols but more data are required. © 2016 John Wiley & Sons, Ltd.
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Inhibinas/sangre , Preeclampsia/sangre , Biomarcadores/sangre , Femenino , Humanos , Embarazo , Primer Trimestre del Embarazo/sangre , Segundo Trimestre del Embarazo/sangre , Embarazo Gemelar/sangre , Estudios RetrospectivosRESUMEN
INTRODUCTION: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis. SUBJECTS AND METHODS: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings. RESULTS: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations. DISCUSSION: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted.
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Encéfalo/diagnóstico por imagen , Craneosinostosis/diagnóstico por imagen , Ultrasonografía Prenatal , Estudios de Casos y Controles , Desarrollo Fetal , Edad Gestacional , Humanos , Estudios Retrospectivos , Cráneo/diagnóstico por imagen , Cráneo/embriologíaRESUMEN
OBJECTIVE: To construct prenatal age-specific reference intervals using ultrasound measurement of total axial length (TAL) in normal fetuses for assessing microphthalmia. METHOD: Prospective cross-sectional study of fetuses assessed at a prenatal ultrasound unit between 2011 and 2014. The study cohort comprised 309 pregnant women attending for routine fetal biometry, viability, or anomaly scan between 14 and 41 weeks of gestation. Only singleton viable fetus with normal anatomy, adequate amniotic fluid, accurate gestational age, and no maternal medical complications of pregnancy were enrolled. Biometric measurements were obtained in the axial plane in all the fetuses. Those measurements and the relevant gestational age were registered in a computerized database. RESULTS: A linear growth function was observed between gestational age and bi-orbital diameter (r(2) = 0.95; p < 0.001), ln (TAL) (r2 = 0.89; p < 0.001), OD (r(2) = 0.86; p < 0.001), and IOD (r2 = 0.79; p < 0.001). Tables showing the 5th, 50th, and 95th centiles of orbital parameters were created based on the reference interval charts. CONCLUSIONS: Ultrasound measurement of the fetal TAL ocular distance is feasible. This may assist the multidisciplinary team in the evaluation of fetal eye abnormalities that might be expressed by deviation in TAL.
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Ojo/diagnóstico por imagen , Edad Gestacional , Microftalmía/diagnóstico por imagen , Órbita/diagnóstico por imagen , Adolescente , Adulto , Estudios Transversales , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/diagnóstico por imagen , Femenino , Humanos , Masculino , Microftalmía/diagnóstico , Embarazo , Estudios Prospectivos , Valores de Referencia , Ultrasonografía Prenatal , Adulto JovenAsunto(s)
Retención de la Placenta/diagnóstico por imagen , Trastornos Puerperales/diagnóstico por imagen , Ultrasonografía , Adulto , Femenino , Humanos , Retención de la Placenta/etiología , Valor Predictivo de las Pruebas , Embarazo , Trastornos Puerperales/etiología , Estudios Retrospectivos , Factores de Riesgo , Factores de Tiempo , Adulto JovenRESUMEN
OBJECTIVE: This study aimed to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus vitro fertilization (IVF) conceived dichorionic twin pregnancies. METHOD: A computerized retrospective study of women referred to our ultrasonographic unit for nuchal translucency examination between January 1997 and December 2011. The study group was subdivided into twins conceived after IVF, non-IVF fertility treatment and spontaneously conceived twins. Birthweight discordance was defined as a difference of birthweights of >20%. RESULTS: A total of 688 dichorionic twin pregnancies were included, all of them ending in live birth of both twins. IVF-conceived pregnancies were associated with a significant increased risk of extreme birthweight discordance compared with spontaneous-conceived twin pregnancies (OR = 2.3; CI = 1.4-3.8, P < 0.001). A significant correlation was found between CRL discrepancy and birthweight discordance in spontaneous-conceived pregnancies (r = 0.15, P < 0.05). In contrast, there was no significant correlation between CRL discrepancy and birthweight discordance in both IVF and fertility treatment-conceived pregnancies. CONCLUSION: Because birthweight discordance in IVF-conceived twins did not correlate with CRL discrepancy, we assume that it emerges later in pregnancy, maybe related to maternal underplaying complications, for which IVF was indicated in the first place.
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Peso al Nacer , Largo Cráneo-Cadera , Fertilización In Vitro , Gemelos , Adulto , Femenino , Desarrollo Fetal , Humanos , Embarazo , Estudios RetrospectivosRESUMEN
To evaluate the development of neutralizing Anti-Spike Protein IgG (Anti-S-IgG) during twin pregnancies before conception vs. during pregnancy. In this prospective study, three blood samples were collected from pregnant women and subjected to anti-S-IgG immunodiagnostics. The patient's medical records, including vaccination and PCR test results, were collected from the hospital's electronic database. Age-matched non-pregnant women were used as a control group. We enrolled 83 women with twin pregnancies. 49 women were vaccinated before conception, 21 women were vaccinated during pregnancy, and 13 were not vaccinated. Of the 13 women who weren't vaccinated, three became positive during pregnancy, and all three were severely ill. By contrast, in women who were vaccinated during or before pregnancy, COVID-19 infection during pregnancy caused only mild symptoms. A ten-fold lower level of neutralizing Anti-S-IgG in the 3rd trimester was observed in healthy women who were vaccinated before conception and remained healthy until discharge from the hospital after delivery 1605 (IQR: 763-2410) compared to the healthy women who were vaccinated during pregnancy 152 AU/mL (IQR: 54-360). This difference was higher among women who were infected by COVID-19 (as verified by a positive PCR test). The third-trimester level of neutralizing Ant-S-IgG in the infected group was 4770 AU/mL (4760-6100) in infected women vaccinated before conception compared to those vaccinated during pregnancy who had 70 AU/mL (IQR: 20-170) (p < 0.001). In women vaccinated at 13-16 weeks gestation, neutralizing Anti-S-IgG at 20-22 weeks went up to 372 AU/mL (IQR: 120-1598) but rapidly dropped to 112 AU/mL (IQR: 54-357) at 28-30 weeks, (p < 0.001), a faster decline than in women vaccinated at a median 22 weeks before conception. Being infected by COVID-19 before conception was linked to having low Anti-S-IgG levels during pregnancy, whereas being infected by COVID-19 during pregnancy led to a very high response in the 3rd trimester. In twin pregnancies, significantly lower neutralizing Anti-S-IgG levels were observed in women vaccinated during pregnancy compared to those vaccinated before conception, whether infected or not infected by COVID-19. A full course of vaccination before conception is recommended.Trial registration. ClinicalTrials.gov Protocol Registration and Results System (PRS) Receipt Release Date: October 4, 2021. https://clinicaltrials.gov/ ID: NCT04595214.
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Vacunas contra la COVID-19 , COVID-19 , Inmunoglobulina G , Embarazo Gemelar , SARS-CoV-2 , Vacunación , Humanos , Femenino , Embarazo , Embarazo Gemelar/inmunología , Adulto , COVID-19/prevención & control , COVID-19/inmunología , Vacunas contra la COVID-19/inmunología , Vacunas contra la COVID-19/administración & dosificación , Estudios Prospectivos , SARS-CoV-2/inmunología , Inmunoglobulina G/sangre , Inmunoglobulina G/inmunología , Complicaciones Infecciosas del Embarazo/prevención & control , Complicaciones Infecciosas del Embarazo/inmunología , Anticuerpos Antivirales/sangre , Anticuerpos Antivirales/inmunología , Anticuerpos Neutralizantes/sangre , Anticuerpos Neutralizantes/inmunología , Glicoproteína de la Espiga del Coronavirus/inmunologíaRESUMEN
AIMS: To determine first trimester maternal serum placental protein 13 (PP13) in singletons vs. twins with and without severe preeclampsia (PE). METHODS: Serum samples were prospectively collected at 8-14 weeks of gestation. PP13 was determined by solid-phase immunoassay. Patients were recruited in community clinics throughout the country, and from the twin antenatal assessment clinic in Assaf Harofeh Medical Center, Zerifin, Israel. Demographics, medical, and pregnancy history were obtained at enrollment. Pregnancy outcome was collected after delivery. PP13 was compared by the Wilcoxon rank sum test. RESULTS: In singletons, PP13 declined with maternal weight and was lower in in vitro fertilization. Levels were converted into multiples of the median (MoMs) accordingly. In twins, the median was 1.74 MoM (n=76) vs. 1.00 in singletons (n=676, P<0.0001). Among twins with severe PE (n=10), the median was 1.53 MoM vs. 1.74 in unaffected twins (P=0.10), and 2.26 (n=6) for mild PE (P=0.30). Among singletons with severe PE, the median was 0.44 MoM (n=26, P<0.0001), and for mild PE 0.62 (n=17, P<0.001). CONCLUSION: PP13 is higher in twins than singletons, corresponding to the larger placental mass. Among singletons with severe PE, levels were significantly reduced, however, among twins, only a non-significant tendency for a reduction was recorded, and warrants further investigation in a larger series.
Asunto(s)
Galectinas/sangre , Preeclampsia/sangre , Proteínas Gestacionales/sangre , Embarazo Gemelar/sangre , Adolescente , Adulto , Biomarcadores/sangre , Estudios de Cohortes , Femenino , Fertilización In Vitro , Humanos , Recién Nacido , Persona de Mediana Edad , Preeclampsia/etiología , Preeclampsia/prevención & control , Embarazo , Resultado del Embarazo , Primer Trimestre del Embarazo/sangre , Estudios Prospectivos , Factores de Riesgo , Adulto JovenRESUMEN
OBJECTIVES: The purpose of this study was to assess fertility performance and obstetric outcomes after treatment of cesarean scar pregnancy. METHODS: We conducted a retrospective study in a large tertiary hospital in Israel. The study included 18 women with a diagnosis of cesarean scar pregnancy between 2000 and 2009. RESULTS: The incidence of cesarean scar pregnancy among our parturient patients was 1 per 3000 for the general obstetric population and 1 per 531 among those with at least 1 cesarean delivery. Sixteen were treated primarily with methotrexate. Two were treated primarily by surgery, and 2 more were treated by surgery after failed methotrexate treatment. After cesarean scar pregnancy treatment, 7 women conceived spontaneously, and 1 conceived by in vitro fertilization-intracytoplasmic sperm injection. The remaining 10 (55%) did not wish to conceive again. Two of the women who became pregnant (25%) had recurrent cesarean scar pregnancy. CONCLUSIONS: This study shows encouraging results for fertility performance and obstetric outcomes after treatment of cesarean scar pregnancy. Nevertheless, the risk of recurrent cesarean scar pregnancy is not negligible.