A. Geipel

Prenatal diagnosis of single umbilical artery: determination of the absent side, associated anomalies, Doppler findings and perinatal outcome

Objective To determine the absent side of a single umbilical artery and its association with malformations and abnormal karyotypes.

Doppler indices of the middle cerebral artery in fetuses with cardiac defects theoretically associated with impaired cerebral oxygen delivery in utero: is there a brain-sparing effect?

To assess changes in the Doppler flow profiles of the middle cerebral artery in fetuses with cardiac defects theoretically associated with impaired cerebral oxygen delivery in utero.

Different preferences for prenatal diagnosis in pregnancies following assisted reproduction versus spontaneous conception.

The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal aneuploidy. Women with assisted conception attended significantly more often for first trimester prenatal diagnosis (57.9 versus 34.9%, P < 0.01), but had fewer examinations in the early second trimester at 15-18 weeks (37.8 versus 48.8%, P < 0.01) than those with spontaneous conception. Screen positive results of 6.5 and 6.9% for first trimester examination and 6.0 and 7.3% for second trimester examination were found in assisted conceptions and controls respectively. A significantly higher rate of invasive prenatal diagnosis was observed in the second trimester for spontaneous conceptions, 20.0 versus 11.8% (P < 0.01) compared with assisted conceptions. This was attributed to the higher rate of invasive procedures in advanced maternal age >/=35 years of 40.7 versus 28.6% (P = 0.01) in spontaneous and assisted conceptions respectively. With the purpose of avoiding invasive testing, women with assisted conception were more likely to use the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic amniocentesis as a first option.

Early vs late intervention in twin reversed arterial perfusion sequence

To compare two different management approaches in prenatally diagnosed twin reversed arterial perfusion (TRAP) sequence.

Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester

To investigate the performance of nuchal fold thickness, nasal bone hypoplasia, reversed flow in the ductus venosus and tricuspid valve regurgitation in the prediction of fetal aneuploidies in the early second trimester.

Altered first-trimester screening markers after IVF/ICSI: no relationship with small-for-gestational-age and number of embryos transferred

First-trimester serum markers in 110 in-vitro fertilization (IVF) and 331 intracytoplasmatic sperm injection (ICSI) pregnancies were compared with 1431 pregnancies with spontaneous conception. Alterations of serum markers were evaluated with respect to small-for-gestational-age (SGA) growth and number of embryos transferred. For pregnancy-associated plasma protein A (PAPP-A), significantly lower concentrations were observed in IVF and ICSI pregnancies compared with controls (0.86 and 0.9 versus 1.06; P<0.001). Free beta-human chorionic gonadotrophin (betaHCG) values were significantly higher in the IVF/ICSI groups than in controls (1.1 and 1.1 versus 0.94; P<0.005). IVF and ICSI pregnancies showed higher rates of SGA (10.0% and 8.2%) compared with natural conception (4.6%), but differences in PAPP-A concentrations remained significant (P<0.005) after the exclusion of SGA pregnancies. No relationship between serum values and the transfer of one, two or three embryos was observed. Centre-specific corrections may be needed to adjust screening parameters for assisted reproductive technology.

Reversed end‐diastolic flow in the umbilical artery at 10–14 weeks of gestation is associated with absent pulmonary valve syndrome

To determine the incidence of reversed end‐diastolic flow (REDF) in the umbilical artery in high‐risk first‐trimester pregnancies and evaluate associated conditions.

Bronchopulmonary sequestration with massive pleural effusion: pleuroamniotic shunting vs intrafetal vascular laser ablation

To assess the incidence of complications among a relatively large cohort of fetuses with bronchopulmonary sequestration (BPS) and the success of two different intrauterine treatment modalities.

Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome.

To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome.

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

Simpson–Golabi–Behmel (SGBS) syndrome type 1 and type 2 represent rare X‐linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work‐up.