Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

Background  

Analysis of the middle ear with fetal MRI has not been previously reported.     

First-trimester fetal sex determination in maternal serum using real-time PCR.

Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developed to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses.     

How can we improve perinatal care in isolated multiple intestinal atresia? A retrospective study with a 30-year literature review

IntroductionMultiple intestinal atresia (MIA) is a rare cause of neonatal intestinal obstruction. To provide an overview of the current prenatal, surgical, and nutritional management of MIA, we report our experience and a literature review of papers published after 1990.MethodsAll cases of isolated MIA (non-hereditary, not associated with apple-peel syndrome or gastroschisis) treated at our institution between 2005 and 2016 were reviewed and compared with cases found in the literature.ResultsSeven patients were prenatally suspected of having intestinal obstruction and were postnatally diagnosed with MIA, with a mean 1.7 (1–2) resections–anastomoses (RA) and 6 (1–10) strictureplasties performed, resulting in a mean resected bowel length of 15.1 cm (15–25 cm). Median time to full oral feed was 46 days (14–626 days). All patients were alive and none had orality disorder after a mean follow-up of 3.1 years (0.2–8.1 years). Three surgical strategies were found in the literature review: multiple RA (68%, 34/50) including Santulli's technique in four of 34 (12%) and anastomoses over a transanastomotic tube (32%, 16/50), with a 98% survival rate, and short-bowel syndrome for only two patients.ConclusionBowel-sparing surgery and appropriate medical management are key to ensuring a favorable nutritional and gastrointestinal outcome and a good prognosis. Prenatal assessment and standardization of the surgical course of treatment remain challenging.