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Objective: Morbidity in fetuses affected by gastroschisis is mainly the result of bowel ischaemic and inflammatory processes. Experimental studies on animal models show that clearing amniotic fluid from the digestive secretions by amnioexchange procedures reduces the inflammatory process. We evaluated the benefit of the amnioexchange procedure for fetal gastroschisis in humans., Design: Prospective, interventional, randomised study., Setting: Eight referral centres for fetal medicine., Population: Pregnant women carrying a fetus with gastroschisis., Methods: We compared, in utero, amnioexchange with a sham procedure. The protocol included, in both arms, steroid injections at 30 weeks of gestation and the use of postnatal minimal enteral feeding., Main Outcome Measures: The primary outcome was a composite variable based on the duration of ventilation and parenteral nutrition. Secondary outcomes were the effectiveness and safety of the amnioexchange procedure, including the rate of perinatal death, time to full enteral feeding, primary closure, and late feeding disorders., Results: Sixty-four patients were randomised. There was no difference in the composite criteria between the amnioexchange and control groups. Based on an intention-to-treat analysis, there were no significant between-group differences in pregnancy outcome or complications. When studying the relationship between digestive compounds and amniotic fluid inflammatory markers, a clear correlation was found between bile acid and both ferritin and interleukin 1β (IL1β)., Conclusions: In humans, amnioexchange, as described in our protocol, is not an option for fetal care; however, we provide supplementary proof of the involvement of inflammation in the pathogenicity of gastroschisis and suggest that future research should aim at reducing inflammation. ClinicalTrials.gov: NCT00127946., Tweetable Abstract: A prospective, interventional, randomised study shows no benefit of amnioexchange for fetal gastroschisis in humans., (© 2019 Royal College of Obstetricians and Gynaecologists.)

Pentalogy of Cantrell is a rare thoraco-abdominal disruption with a variable association of abdominal wall, diaphragm, pericardium, sternum, and heart defects. Diagnosis is feasible on antenatal sonography. However, because prognosis depends on the extent of the defect, anatomic assessment is crucial for optimal parental counseling and decision-making regarding the outcome of pregnancy. We report the use of 2-dimensional and 3-dimensional sonography in the diagnosis of pentalogy of Cantrell.

Objectives: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease during the first year of life. There is no specific ultrasound prenatal diagnosis and no identified genetic locus. The value of amniotic fluid digestive enzyme assay and fetal urine biochemistry in the prediction of MMIHS was analysed., Methods: Retrospective study of 14 MMIHS cases. Amniotic fluid digestive enzymes and fetal urine biochemistry were compared in MMIHS and megabladder (63 and 264 cases respectively)., Results: Abnormal amniotic fluid digestive enzyme profile (vomiting of bile or digestive secretion leakage) was observed in 8/10 MMIHS cases. These profiles were observed in 7/63 controls; 80% sensitivity (95%CI = 55%-100%); 89% specificity (95%CI = 81%-96%). Fetal urinalysis was normal in 12/12 MMIHS cases except high calcium (>0.6 mmol/l). This profile was observed in 33/264 megabladder control cases; 100% sensitivity; 98.7% specificity (95%CI = 83.5%-91.5%)., Conclusion: For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis., (Copyright 2005 John Wiley & Sons, Ltd.)

Objective: To describe the incidence, associated features including chromosomal defects in fetuses, with cleft lip and/or palate and assess the need for karyotyping., Methods: Retrospective study of 62 cases of prenatally diagnosed facial cleft lip and/or palate in a tertiary fetal medicine unit between January 1991 and December 1999. Chromosome analysis was performed in all fetuses with associated ultrasound findings and in 14 (39%) fetuses with isolated facial clefts., Results: Associated abnormalities were detected in 26 (42%) of the 62 fetuses of which 22 (35%) fetuses had multiple other abnormalities. Central nervous system abnormalities and limb malformations were the most common. Three fetuses had genetic syndromes confirmed after birth. All fetuses with isolated clefts were chromosomally normal, whereas 15 of the 26 with additional abnormalities (58 or 24% of the total group) had chromosomal defects (eight cases of trisomy 13, five of trisomy 18, one unbalanced translocation between chromosomes 7 and 8, and one deletion 4p-). All 22 women who chose not to undergo fetal karyotype analysis delivered phenotypically normal infants. There were five midline clefts; each of them was associated with additional sonographic findings and four were associated with holoprosencephaly., Conclusion: Isolated facial clefting is not associated with an increased risk for chromosomal defect. Amniocentesis is recommended when facial cleft is found in association with additional ultrasonographic abnormalities as it is unnecessary for isolated clefts.

We present a case of a fetal dyshormonogenetic goiter diagnosed by ultrasound examination at 24 weeks of gestation, in a woman with no past history of thyroid disease or goitrogen treatment and with normal thyroid tests, including absence of auto-antibodies. In this situation, fetal goiter may only be associated with fetal hypothyroidism, therefore cord blood sampling was not performed but early treatment was initiated. Amniotic fluid instillation of thyroid hormone led to a rapid decrease in amniotic fluid volume and a clear reduction in thyroid goiter. However, fetal thyroid volume did not totally normalise, and cord blood analysis at birth showed elevated fetal TSH level. As prenatal treatment of fetal hypothyroidism remains controversial in euthyroid mothers, the main objective is to prevent obstetrical complications of large goiters. Therefore, in some selected cases with no maternal history of thyroid disease and normal thyroid function tests, cordocentesis is not necessary to confirm fetal thyroid status or to adjust fetal treatment.

Small follicular or functional theca-lutein cysts are a common finding in fetal and neonatal ovaries. After delivery, decrease of hormonal stimulation may lead to spontaneous resolution of the cyst. A high rate of complication has been underlined by recent studies, the most common being ovarian torsion with subsequent loss of the ovary. Because torsion may happen with any size of cyst, however large or small, we suggest in utero decompression even in small fetal ovarian cysts (< 5 cm). We report here three cases of such cysts managed by intrauterine aspiration with good outcome and no further need for neonatal surgery. In all cases cytology of the cyst aspirate demonstrated numbers of granulosa cells and fluid biochemistry showed a high amount of estradiol, progesterone, and testosterone that confirmed the etiology as ovarian. Despite the small size of the cysts, no technical difficulties were encountered and no maternal or fetal morbidity occurred. Prenatal management of fetal ovarian cysts remains controversial, however, and our limited experience needs to be assessed on a larger number of cases.

The article presents a study which describes and assesses the sonographic findings, evolution and clinical implications of thrombosis of the fetal dural sinuses. It was found that thrombosis of the cerebral venous circulation can occur antenatally and is detectable by fetal real-time and color Doppler ultrasound examination. It notes that a review of the literature supports targeted evaluation of the fetus by ultrasound imaging and magnetic resonance imaging to guide the diagnosis.