Near-Term Cerebroplacental Doppler, Heart Morphology, and Neonatal Biometry in Hypoplastic Left Heart Syndrome.

OBJECTIVES: To analyze near-term cerebroplacental Doppler, heart morphology, and neonatal biometry in isolated hypoplastic left heart syndrome (HLHS) relative to healthy controls. METHODS: This retrospective study included 55 fetuses with HLHS (29 with mitral valve stenosis [MS]/aortic valve atresia [AA], 14 with MS/aortic valve stenosis, and 12 with mitral valve atresia [MA]/[AA]) diagnosed prenatally between 2010 and 2019 at 2 referral centers and 101 healthy controls. Ultrasound assessment included umbilical artery (UA), middle cerebral artery (MCA) pulsatility index (PI), and cerebroplacental ratio (CPR), with neonatal weight, length, head circumference (HC), Apgar score, and UA pH measured at birth. RESULTS: In total, 32.7% of HLHS fetuses had abnormal MCA-PI and UA-PI, and 38.2% had CPRs below the fifth percentile before birth. All tested Doppler parameters differed from those of the healthy controls (P ≤ .01). Birth weight and length were comparable between HLHS and control fetuses, whereas birth HCs were smaller in the HLHS group than in the control group (P = .018). In both groups, increased UA-PI correlated with lower birth weight, but only HLHS fetuses with UA-PI > the 95th percentile had a lower median HC at birth than those with normal UA-PI (P = .045). The median UA-PI percentile was higher in fetuses with MA than in fetuses with MS (P = .015). The ascending aortic diameter correlated with birth weight (P = .036) and birth length (P = .039). CONCLUSION: Abnormal cerebroplacental hemodynamics are evident in a high percentage of near-term fetuses with HLHS, and increased placental resistance may contribute to birth weight and HC. Moreover, heart morphology may impact placental circulation and neonatal biometry.

Hypoplastic left heart syndrome: from the prenatal to the postnatal period.

OBJECTIVES: To analyse a population of foetuses with prenatally diagnosed hypoplastic left heart syndrome (HLHS). MATERIAL AND METHODS: Retrospective study of foetuses diagnosed with HLHS between 2013 and 2017 in a referral centre. RESULTS: HLHS was found in 9.7% (65/665) of foetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, HLHS was present in 40% of cases; in 24.5% other CVA were detected; in 14%, CVA and extracardiac anomalies; and in 21.5% only extracardiac malformations. Genetic disorders were present in 18.4% (12/65) of foetuses. 42% of cardiovascular and 25% of extracardiac anomalies were diagnosed postnatally. There were 10 (15.4%) elective terminations, 1 (1.5%) spontaneous foetal demise. Two newborns died after birth before surgery. Of the 52 children who underwent Norwood surgery, 13 (25%) died (9 with additional anomalies, and 4 with isolated HLHS). Of the 38 children who underwent stage II surgery, 2 (5.2%) with isolated HLHS died, and 1 (2.6%) with CVA. CONCLUSIONS: A diagnosis of HLHS is an indication for a detailed examination of cardiac and noncardiac structures. It is advisable to consider genetic testing, together with the microarray assessment. The prognosis depends on underlying cardiac and extracardiac anomalies and coexisting genetic defects.

Nasal bone in screening for Trisomy 18 and 13 at 11-13 + 6 weeks of gestation - own experiences.

OBJECTIVES: The objective of the paper is the suitability assessment of screening for Trisomy 18 and 13 on the basis of NT measurement, FHR, double test and assessment of Nasal Bone. MATERIAL AND METHODS: The study was performed in 6,661 singleton pregnancies. In each fetus NT, FHR, DV-PIV were examined. Double test from maternal blood was examined. These ultrasound and biochemical factors were in combined screening investigated. Additional ultrasound marker - Nasal Bone was and its impact on Trisomies 18 and 13 screening was examined. RESULTS: Two groups of patients were compared - with chromosomal normal and chromosomal abnormalities - Trisomy 18 and 13. Detection Rate of Trisomies 18 and 13 at the risk cutoff 1/300 using combined screening was 84.1% and FPR was 7.1%. Detection Rates of examined chromosomal abnormalities using screening with additional marker - NB was 93.2% and False Positive Rate - 5.6%. CONCLUSIONS: It should be noted that the qualitative analysis of the assessment of NB in the first trimester significantly influences the improvement of screening values focusing on Trisomy 18 and 13 detection. In summary, our research indicates a more effective type of Trisomy 13 and 18 screening using NT, double test, maternal age, CRL and FHR as well as nasal bone presence and absence.

Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 - suitability study.

OBJECTIVES: The objective of the paper is the suitability assessment of screening for Trisomy 18 and 13 on the basis of nuchal translucency (NT) measurement, Fetal Heart Rate (FHR), double test, quantitative [Ductus Venosus (DV) Pulsatility Index for Veins (PIV)] and qualitative (the A-wave assessment) blood flow evaluation in the DV. MATERIAL AND METHODS: The study was performed in 7296 singleton pregnancies. In each fetus NT, FHR, DV-PIV were examined. Double test from maternal blood was examined. These ultrasound and biochemical factors were in combined screening investigated. Additional doppler ultrasound markers such as abnormal a-wave in Ductus Venosus and Pusatility Index for Veins of Ductus Venosus were and their impact on Trisomies 18 and 13 screening were examined. RESULTS: Two groups of patients were compared - with chromosomal normal and chromosomal abnormalities - Trisomy 18 and 13. Detection Rate of Trisomies 18 and 13 at the risk cutoff 1/300 using combined screening was 90.2% and FPR was 6%. Detection Rates of examined chromosomal abnormalities using contingent screening were: 92.1% using DV abnormal a-wave and 94.84% using DV-PIV. FPR's for booths parameters 5.8% and 5.4% respectively. CONCLUSIONS: Quantitative analysis of the flow - assessment of DV-PIV in the first trimester significantly influences the improvement of screening values focusing on Trisomy 18 and 13 detection.

A Retrospective Study on the Risk of Respiratory Distress Syndrome in Singleton Pregnancies with Preterm Premature Rupture of Membranes between 24+0 and 36+6 Weeks, Using Regression Analysis for Various Factors.

AIM: This study aimed to investigate the cause of respiratory distress syndrome (RDS) in neonates from singleton pregnancies with preterm premature rupture of membranes (pPROM) between 24+0 and 36+6 weeks by using regression analysis for various factors. METHODS: In 175 singleton pregnancies with pPROM, 95 cases of RDS (54,29%) were diagnosed. In all cases the following information was collected: latency period of PROM, gestational age at birth, Umbilical Artery Pulsatility Index (UA PI), Middle Cerebral Artery Pulsatility Index (MCA PI), fetal distress, antenatal steroids use, delivery type, pregnancy hypertension disease, gestational glucose intolerance or diabetes, neonatal laboratory parameters, gender, weight, Apgar score, and other neonatal complications. Logistic regression analysis was used to investigate the effect of variables on RDS. RESULTS: The results of logistic regression analysis showed that the following variables are closely correlated with RDS: female gender (OR=0.52; 95%CI:0.28-0,97), antenatal steroids use (OR=0,46; 95%CI:0,34-0,64), abnormal UA PI and MCA PI (OR=2.96; 95%CI:1,43-6,12) (OR=2.05; 95%CI:1,07-3,95), fetal distress (OR=2.33; 95%CI:1,16-4,71), maternal HGB (OR=0.69; 95%CI:0,5-0,96), and neonatal RBC, HGB (OR=0.32; 95%CI:0,19-0,55) (OR=0.75; 95%CI:0,65-0,88). CONCLUSIONS: The main RDS risk factors in premature neonates are gender, abnormal fetoplacental circulation, and fetal distress. The laboratory parameters such as lower RBC and HGB count are observed in infants with RDS.

Human embryonic cardiovascular function.

INTRODUCTION: This review presents an overview of descriptive knowledge on human embryonic cardiovascular physiology mostly based on noninvasive assessment by Doppler ultrasonography. Our objective was to identify and analyze published studies on embryonic cardiovascular function, and summarize available knowledge in this field. MATERIAL AND METHODS: Citations related to human embryonic cardiovascular function were searched in PubMed, EMBASE, CINAHL and Web of Science using keywords and MeSH terms without any time limitation. The search was restricted to English language articles. Abstracts were screened and full texts of relevant articles were obtained. All articles that reported on physiological aspects of human embryonic cardiovascular function were included. Studies reporting on cardiovascular function after 10 weeks of gestation were excluded. Data were synthesized and presented narratively. RESULTS: We identified 10 studies that had evaluated cardiovascular function and/or hemodynamics in human embryos at ≤10 weeks of gestation. All of these reported only certain aspects of embryonic cardiovascular function. Embryonic heart rate is associated significantly with gestational age and increases from 6 to 10 weeks of gestation. Cardiac inflow is monophasic during the embryonic period and atria appear to generate higher force during contraction compared with ventricles. Both ventricular inflow and outflow velocities increase with advancing gestation, whereas the Tei index decreases significantly. During the embryonic period, placental blood flow increases with gestation, but absent umbilical artery diastolic flow and umbilical venous pulsations are normal phenomena. CONCLUSION: There are important differences in normal cardiovascular function between the embryonic and fetal stages of human in utero development.

The evolution of fetal presentation during pregnancy: a retrospective, descriptive cross-sectional study.

We investigated changes in the frequencies of four primary types of singleton fetal lie/presentation for each gestational week from 18 to 39 weeks in a retrospective, cross-sectional study which analyzed ultrasound examination records of fetal positions, in the outpatient prenatal diagnosis clinics in two cities in Poland. We calculated the prevalence and 95% confidence intervals for each type of lie/presentation. We then identified the gestational age after which no statistically significant changes in terms of prevalence were observed, by comparing the results at each week with the prevalence of cephalic presentation at 39(+0) weeks, used as reference. A total of 18 019 ultrasound examinations were used. From 22 to 36 weeks of gestation, the prevalence of cephalic presentation increased from 47% (45-50%) to 94% (91-96%), before and after which times plateaus were noted. Spontaneous change from breech to cephalic is unlikely to occur after 36 weeks of gestation.

Does prior knowledge of maternal age affect judgment of operators measuring nuchal translucency?

OBJECTIVES: To test the hypothesis that, in real life standard clinical practice, knowledge of maternal age (MA) by operators measuring nuchal translucency (NT) for screening of aneuploidy may influence their judgment, resulting in a tendency to over-measurement in older women. MATERIAL AND METHODS: We retrospectively analyzed the correlation between MA and NT MoMs in data from a group of operators from several clinical practices, with different levels of experience. RESULTS: We assessed 66,918 measurements by 41 operators. There was no association between NT and MA in all the measurements analyzed together In 3 experienced operators (N > 1900), there was a significant association between the variables, although all were negative and its effect size was very small (0.004, 0.006 and 0.01). However one of the less experienced operators (N = 47) had a statistically significant (p = 0.0002) and strong (R2 = 0.2634) association. We tested the hypothesis that this bias could occur in less experienced operators but time/experience would correct it. We did the same analyses for each set of 50 tests, sorted by date, for each operator up to the 7th set. No significant progression was identified in association with increase in experience. CONCLUSIONS: Our data does not support the hypothesis that operators might be biased towards over-measuring NT in older women.

[Agenesis of the ductus venosus--an irrelevant anomaly or a severe clinical problem?]. / Agenezja przewodu zylnego--niegrozna nieprawidlowosc rozwojowa czy powazny problem kliniczny?

BACKGROUND: Ductus venosus is the fetal blood vessel connecting the abdominal portion of the umbilical vein with the inferior vena cava. Numerous studies have confirmed the important role of this vessel in fetal circulation. There are, however cases when finding the ductus venosus during an ultrasound examination is impossible. OBJECTIVE: The objective of the study was to assess the fate of fetuses with known ductus venosus agenesis and its severity in fetal life. MATERIAL AND METHODS: 17 fetuses from singleton pregnancies with agenesis of the ductus venosus were observed and followed up. RESULTS: A total of 3 intrauterine deaths, preceded by fetal hydrops and signs of heart failure, were observed in the study group. One newborn required cardiac care after birth. In the majority of cases with ductus venosus agenesis, where no accompanying developmental anomalies were found, prognosis for the fetus and the newborn was good. CONCLUSIONS: Cases of ductus venosus agenesis should be directed to and followed up in referral centers, where adequate diagnostic and therapeutic procedures can be undertaken.

Frontomaxillary facial angle measurement in screening for trisomy 18 at 11 + 0 to 13 + 6 weeks of pregnancy: a double-centre study.

OBJECTIVE: The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement. MATERIAL AND METHODS: The study involved 1751 singleton pregnancies at 11-13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, and FMF angle were measured in all patients. 1350 fetuses with known follow-up were included in the final analysis. RESULTS: Highly significant (P < 0.01) negative correlation between the CRL and the FMF angle was found. There were 30 fetuses with trisomy 18. FMF angle was highly significantly larger (P < 0.0001) in fetuses with trisomy 18 as compared to chromosomally normal fetuses. Two models of first trimester screening were compared: Model 1 based on maternal age, NT, and first trimester biochemistry test (DR 80-85% and FPR 0.3-0.6%), and Model 2 = Model 1 + FMF angle measurement (DR 87.3-93.3% and FPR 0.8-1.3%). CONCLUSIONS: The use of FMF angle measurement increases the effectiveness of the screening for trisomy 18. Introduction of the FMF angle as an independent marker for fetal trisomy 18 risk requires further prospective research in large populations.

[Frontomaxillary facial angle measurement at 11+0 to 13+6 weeks' gestation. Application in every day prenatal diagnosis of trisomy 21]. / Pomiar kata twarzowo-szczekowego u plodów pomiedzy 11+0 a 13+6. tygodniem ciazy. Zastosowanie w diagnostyce prenatalnej trisomii 21.

OBJECTIVE: The aim of the study was to evaluate the effectiveness of prenatal screening for trisomy 21 with the use of the FMF angle measurement, depending on the disease risk group. MATERIAL AND METHODS: The study included 2,026 single pregnancy fetuses, examined in years 2009-2011. The crown-rump length, nuchal translucency and frontomaxillary facial angle were measured for each of the fetuses according to the Fetal Medicine Foundation guidelines. All ultrasound exams were performed using trans-abdominal probes paired with Voluson 730 Expert and Expert E8 systems. All physicians conducting the exams were FMF-certified professionals. Maternal age at the time of the study was also reported. In 1621 pregnant women serum concentration of PAPP-A was determined using Delfia Express system (Perkin Elmer). Astraia software was used to assess fetal risk of trisomy 21. The final analysis included 791 fetuses which were followed up for the occurrence of trisomy 21. Data were analyzed using PQStat package ver 1.4.2.324. Highly significant likelihood was set at p < 0.01 and significant likelihood at p < 0.05. RESULTS: Average maternal age was 31.42 years (median: 32 in a range from 27 to 45). Average FMF angle was 76.24 degrees (median: 75 degrees in a range from 69 to 04). Average CRL measurements was 63.70 mm (median: 64.10 mm in a range from 45 to 84). Average NT measurement was 1.91 mm (median: 1.6 mm in a range from 0.50 to 9.3). There was no significant (p > 0.05) correlation between maternal age and FMF. Highly significant (p < 0.01) negative correlation between the CRL and the FMF angle was found. There were 41 fetuses with trisomy 21 (Down syndrome) in the study group. In the normal karyotype group, the FMF angle was highly significantly lower (p < 0.0001) than in the trisomy 21 group. 95th percentile of the each of four separated CRL ranges was calculated. Detection rate and false positive rate for each of four different risk levels were estimated. They were used as cutoff points for two models of first trimester screening compared: Model 1, including maternal age, NT measurement and PAPP-A test, and Model 2, including maternal age, NT measurement, PAPP-A test and Frontomaxillary facial angle measurement. CONCLUSIONS: 1. Detection rate (DR) of the Down syndrome increases after the introduction of FMF angle measurement as an additional component of screening including maternal age, NT measurement and PAPP-A test. 2. Introduction of the FMF angle as an independent marker for fetal trisomy 21 risk requires further research on large populations.

[Prenatally reported fetal ovarian cysts--treatment and prognosis]. / Torbiele jajnika wykrywane prenatalnie u plodu--postepowanie i rokowanie.

We present 6 case reports of ovarian cysts, diagnosed in the prenatal and postnatal period, as well as treatment. There was no need for invasive prenatal therapy in any of the reported fetuses. Most of the cysts disappeared spontaneously (in one case uncomplicated cyst rupture in fetus have been observed), only in one case laparoscopy was performed after birth.

[Congenital cystic adenomatoid lung malformation - diagnosis and treatment - based on literature and own experiences]. / Wrodzona torbielowatosc gruczolakowata pluc - diagnostyka i leczenie - na podstawie literatury oraz wlasnych doswiadczen.

Congenital cystic adenomatoid malformation (CCAM) is an uncommon congenital abnormality of the lung which has a wide spectrum of potential outcomes, ranging from hydrops and severe respiratory distress with pulmonary hypoplasia, to resolution of the lesion either antenatally or postnatally. Most of the babies are asymtomaptic. It is caused by arrest of normal foetal pulmonary maturation. The prognosis is generally good. In cases where the lesion persists, surgery is recommended. CCAM is an important diagnosis and can be suspected on routine antenatal ultrasound. It has implication for both the ongoing pregnancy, at delivery and later in life. The authors present a male newborn with CCAM diagnosed during the neonatal period. The diagnosis was based on CT scan and histopathological examination. Characteristic plural cystic defects in the lungs were found. The patient was referred for surgical treatment.

Blood flow in ductus venosus in early uncomplicated pregnancy.

UNLABELLED: The ductus venosus is the very important part of fetal venous circulation. It plays a central role in return of venous blood from the placenta. This unique shunt carries well-oxygenated blood from the umbilical vein through the inferior atrial inlet on its way across the foramen ovale. Using Doppler ultrasound, it is possible to assess the blood flow in fetal vessels including ductus venosus. It is observed, in animal and human studies, that the typical waveform for blood flow in ductus venosus in early pregnancy can be different depending on numerous conditions e.g. fetal karyotype. This study is performed to assess the physiologic parameters of blood flow in ductus venosus in uncomplicated early pregnancy. MATERIAL AND METHODS: 404 women were examined between 11+0 and 13+6 weeks (+ days) of gestation by ultrasound. Fetal crown-rump length (CRL) was measured to assess the gestational age. The assessment of risk of fetal abnormalities was based on nuchal translucency (NT) measurement. The ductus venosus blood flow with color and spectral Doppler was obtained in all patients. The following features were assessed: pulsatility index (PI), and direction of flow (positive/negative) during atrial contraction (wave A). All cases were followed up to 22 weeks of gestation when the control scan was performed. RESULTS AND CONCLUSIONS: 30 cases were excluded from the uncomplicated group due to: high risk of fetal abnormalities, fetal loss, confirmed fetal abnormalities and utero-placental pathology. 374 women were considered as uncomplicated pregnancy. In both uncomplicated and complicated groups the mean values for pulsatility index (PI) were established. The mean PI value in uncomplicated pregnancies was: 0.91 (SD +/- 0.32). No significant differences between groups were noticed. In 370 cases of uncomplicated pregnancy the A wave direction was positive but in 1.1% of cases the reverse flow in atrial contraction was observed.

[Evaluation of pregnancy-associated plasma protein A (PAPP-A) and free beta subunit of human chorionic gonadotropin (beta hCG) levels and sonographic assesement of fetal nuchal translucency (NT) in singleton pregnancies between 11 and 14 weeks of gestation--Polish multi-centre research]. / Ocena poziomów osoczowego bialka ciazowego A (PAPP-A) i wolnej podjednostki beta ludzkiej gonadotropiny kosmówkowej (beta hCG) miedzy 11 a 14 tygodniem ciaiy--polskie badania wieloosrodkowe.

UNLABELLED: Evaluation of pregnancy-associated plasma protein A (PAPP-A) and free beta subunit of human chorionic gonadotropin (beta hCG) levels and sonographic assessment of fetal nuchal translucency (NT) in singleton pregnancies between 11 and 14 weeks of gestation--Poland's multi-centers research. OBJECTIVES: Pregnancy-associated plasma protein A has been reported to be low in Down syndrome affected pregnancies during the first trimester of pregnancy. Enlarged nuchal translucency (NT) is observed in about 80% of fetuses affected with chromosomal abnormalities and congenital heart defects (CHD). MATERIAL AND METHODS: The aim of this study were to determine value and the medians of free beta-human chorionic gonadotropin (beta-hCG) and pregnancy associated plasma protein-A (PAPP-A) and nuchal translucency thickness in the first trimester in a prospective study of a non-selected Polish population. RESULTS: All examinations have been performed according to the Fetal Medicine Foundation (FMF) rules. We have included 800 women between 11 weeks 0 days and 13 weeks 6 days gestation into a biochemical examination. Women booked into the clinic were offered screening, using a combination of maternal serum free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A) and fetal nuchal translucency thickness. The maternal serum were measured using the Kryptor analyzer (Brahms Diagnostica). All pregnant women have been divided into 2 groups younger than (first group) and older than (second group) 35 years of age. CONCLUSIONS: Nomogrames for free beta-hCG and PAPP-A levels in physiological pregnancy between 11(+0) and 13(6) weeks were determined in the examined population. A positive correlation between PAPP-A and CRL levels, as well as a weak negative correlation between free beta-hCG and CRL, were demonstrated.

Ultrasonographic assessment of fetal nuchal translucency (NT) at 11th and 14th week of gestation--Polish multicentre study.

UNLABELLED: THE AIMS OF THE STUDY WERE: To evaluate range and median values of NT in a large, unselected Polish population; to determine the value of the 95th percentile and the median values for NT for given weeks of late 1st trimester pregnancy and to determine the level of chromosomal aberration risk corresponding to the values of the 95th percentile in the examined groups; to examine the possible correlation between CRL, NT width as well as the mother's age with the risk of the most frequent chromosomal aberrations. MATERIAL & METHODS: We have retrospective analyzed 7,866 pregnant women. All fetuses of this women had NT measurement performed, as well as CRL and assessed of the most frequent chromosomal abnormalities. The group of pregnant women was divided into 2 subgroups: until and above 35 years old. All population group was divided into 3 subgroups depending on gestational age (11, 12 and above 13th weeks of gestation). RESULTS: The median of NT in all population group was 1.5 mm and 95th percentile was 2.4 mm, whilst in group with low risk median of NT and 95th percentile were the same and in group with high risk of chromosomal abnormalities respectively 1.5 mm and 2.5 mm. There were strong correlations between maternal age and the risk of most frequent chromosomal abnormalities from NT. CONCLUSIONS: The obtained results of median values and the 95th percentiles of NT in the examined group and the age groups under 35 and 35 plus are similar to these quoted by FMF. The risk levels of trisomy of 21st chromosome were similar to the reference values used by FMF. With gestational age, NT value increases in a non-linear way, therefore it is incorrect to use the term "a normal value" for NT, therefore, only the risk level calculated with the dedicated software using NT and CRL measurements with maternal age should be stated.