RESUMEN
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%-33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole-genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling.
Asunto(s)
Cromosomas/ultraestructura , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal , Aneuploidia , Aberraciones Cromosómicas , Trastornos de los Cromosomas/genética , Cromosomas/genética , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 18 , Cromosomas Humanos Par 21 , Diagnóstico Tardío , Femenino , Feto , Humanos , Países Bajos , Embarazo , TrisomíaRESUMEN
BACKGROUND: With the rising rate of cesarean deliveries, the rate of placenta previa and placenta percreta will rise concomitantly resulting in a greater incidence of severe complications. CASE: This case report describes a pregnancy with a massive intra-abdominal bleeding due to placenta percreta at 14 weeks of gestation. Several management options were discussed, and finally continuation of pregnancy was chosen. No further complications occurred, and in the 35th week, an elective cesarean delivery and hysterectomy were performed. A healthy male newborn of 2,400 g was born. CONCLUSION: While the outcome of pregnancy was favorable in this case, it does not rule out the possibility of severe complications with this management.
Asunto(s)
Hemoperitoneo/etiología , Placenta Accreta/diagnóstico , Diagnóstico Prenatal , Adulto , Cesárea , Diagnóstico Diferencial , Femenino , Humanos , Histerectomía , Recién Nacido , Masculino , Embarazo , Resultado del Embarazo , Primer Trimestre del EmbarazoRESUMEN
In a 34-year-old woman with a dichorionic twin pregnancy, a velamentous insertion of the umbilical cord of the second twin was diagnosed with ultrasound. During caesarean section the second child was born within the membranes; the velamentous insertion was clearly visible.
Asunto(s)
Corion/irrigación sanguínea , Embarazo Gemelar , Cordón Umbilical/anomalías , Cordón Umbilical/diagnóstico por imagen , Adulto , Cesárea , Femenino , Humanos , Recién Nacido , Embarazo , Resultado del Embarazo , UltrasonografíaRESUMEN
A 42-year-old, gravida 1, para 0 woman was induced at a gestational age of 41 weeks because of post-term dates. The fourth stage of delivery was complicated by a massive hemorrhage. The uncontrollable persisting amount of blood loss led to hypovolemic shock and cardiopulmonary arrest. Lifesaving extra access was gained through an intraosseous needle in the proximal tibia. We therefore advocate including the use of an intraosseous needle as an additional route for intravascular volume replacement in case of peripartum hemorrhage.
Asunto(s)
Acrocefalosindactilia/diagnóstico por imagen , Acrocefalosindactilia/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Adulto , Femenino , Humanos , Recién Nacido , Mutación , Linaje , Polihidramnios/diagnóstico por imagen , Embarazo , Nacimiento Prematuro/etiología , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Uterine contractions during labor can be monitored by external tocodynamometry or by the use of an intrauterine pressure catheter (IUPC). Since an IUPC measures the frequency of contractions as well as their strength and duration, it is thought to be more accurate than external tocodynamometry. However, limited evidence on this subject suggests that IUPC may not improve maternal or perinatal outcomes. Moreover, the use of IUPC may cause fetal complications. CASES: We describe the placement of an IUPC during induction of labor with oxytocin in two cases, one presenting with a singleton pregnancy and the other a twin pregnancy. After introduction of the IUPC, both cases were complicated by blood loss and signs of fetal distress on cardiotocography. An emergency cesarean section was performed in both cases. In the first case, extramembranous placement of the IUPC was observed, whereas in the second case, the IUPC had lacerated an arteriovenous anastomosis in the membranes, resulting in perinatal death. CONCLUSION: Placement of an intrauterine pressure catheter instead of external tocodynamometry has a small risk for serious fetal complications.
Asunto(s)
Cateterismo/efectos adversos , Sufrimiento Fetal/etiología , Monitoreo Fetal/efectos adversos , Errores Médicos , Adulto , Resultado Fatal , Femenino , Humanos , Enfermedad Iatrogénica , Recién NacidoRESUMEN
Maternal predisposition to vascular and metabolic disease may underlie both vascular-related pregnancy complications, such as preeclampsia and intrauterine growth restriction, as well as future maternal cardiovascular disease. We aimed to substantiate this hypothesis with biochemical and anthropometric evidence by conducting an intergenerational case-control study in a Dutch isolated population including 106 women after preeclampsia or intrauterine growth restriction (median follow-up: 7.1 years) and their fathers (n=43) and mothers (n=64), as well as 106 control subjects after uncomplicated pregnancies with their fathers (n=51) and mothers (n=68). Cardiovascular risk profiles were assessed, including fasting glucose, lipids, anthropometrics, blood pressure, intima-media thickness, and metabolic syndrome. We found significantly higher fasting glucose levels, larger waist circumferences, and a 5-fold increased prevalence of hypertension in women with a history of preeclampsia as compared with control subjects (P<0.001). Likewise, their parents had higher glucose levels than control parents (P<0.05). Their mothers had larger waist circumferences and higher blood pressures (P<0.05). Also, women after pregnancies complicated by intrauterine growth restriction had higher glucose levels and increased prevalence of hypertension (P<0.01). Their fathers showed higher glucose levels as well (P<0.05). Mean carotid intima-media thickness was increased in a subset of women after preeclampsia diagnosed with chronic hypertension as compared with those without hypertension (P<0.01). Metabolic syndrome was more prevalent both in women with a history of preeclampsia and their mothers (P<0.05). We demonstrated intergenerational similarities in cardiovascular risk profiles between women after preeclampsia or intrauterine growth restriction and their parents. These findings suggest shared constitutional risks for vascular-related pregnancy complications and future cardiovascular disease.