Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in populations without well-known frequent pathogenic variants. We present a multiethnic cohort of 108 pregnancies with fetal bowel abnormalities in which the parents benefited from an exhaustive study of the CFTR gene. We describe the new homozygous p.Cys1410* mutation in a fetus of African origin. We did not observe the most frequent p.Phe508del mutation in our cohort but evidenced variants undetected by our frequent mutations kit. Thanks to the progress of sequencing techniques and despite the difficulties of interpretation occasionally encountered, we discuss the need to carry out a comprehensive CFTR study in all patients in case of fetal bowel abnormalities.

Prenatal diagnosis: From policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France.

Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners. The fact that access to abortion due to foetal pathology is possible in France, and criminalised in Brazil, conditions how doctors analyse the framework of their medical practice and approach the issue of disability with couples during consultations. In France, practitioners would appear to be satisfied with a professional framework that they themselves created. Faced with prognostic uncertainty, the legal obligation to inform encourages them to discuss all of the potential complications of the diagnosed anomalies and leads them to provide probabilistic information about the life of the child to be, supported by evidence-based medicine. In Brazil, in the public service, the lack of access to abortion has created a malaise among practitioners who criticise this impediment to the objective nature of their practice and to the quality of the information that they provide. Some use prognostic uncertainty to direct the thoughts of women and couples towards the dynamics proper to each individual human trajectory within a given family and a specific social environment.

The uses of ultrasonography in relation to foetal malformations in Rio de Janeiro, Brazil.

The world-wide diffusion of prenatal ultrasound has encountered local historical, cultural and political particularities. The purpose of this article is to study the varied uses of this technology in cases of detection of a foetal anomaly, in Rio de Janeiro, in a context of generalized access to ultrasound, restrictive legislation on abortion and major social inequalities. An ethnographic approach was chosen combining from 2009 to 2011, observations of prenatal consultations and interviews with specialist physicians and pregnant women, in both public and private sector institutions. Analysis of the data allowed us to identify three ideal-typical moments in the trajectory of the pregnant women when a foetal malformation was detected. The first moment occurs before the detection of the anomaly, when an initial ultrasound is carried out, essentially in private centres. The standardized actions of pregnancy monitoring are performed in the background while practitioners use the technology to support the local culture of praise to motherhood and the family. The second ideal-typical moment shows how detection of an anomaly leads to fragmentation of the foetus at the public referral centre for foetal malformations. But far from depersonalizing the consultation, the formalism of the diagnostic procedure is considered by some professionals as a political lever to empower women from poor neighbourhoods as they acquire knowledge and comprehension of the situation despite their lack of decisional autonomy. During the third ideal-typical moment, professionals put the data produced by the image into the larger perspective of the logic of care: the focus is no longer on access to knowledge and autonomy, but on the joint collaboration of women and professionals towards solving the problems of everyday life. The combination of these three moments in time illustrates a process whereby the malformed foetus is humanised, dehumanised and re-humanised with respect to the technological tool.

Women's experience of termination of pregnancy for fetal anomaly: effects of socio-political evolutions in France.

OBJECTIVE: To analyse the experiences of women facing a termination of pregnancy for fetal anomaly (TOPFA) in relation to decisional aspects, attitudes towards the fetus' body and the effects of postpartum depression. The method is based on a two-stage questionnaire given to 120 women who underwent a TOPFA between 2005 and 2006 in a Parisian Prenatal Diagnosis Department and compared to a similar study carried out in 1999 in the same department. RESULTS: In 2005, 68/120 women (57%) compared to 32/103 (32%) in 99 (p < 0.001) believed that the decision of pregnancy termination belongs to couples and doctors together. However, in advanced pregnancy or fetal pathology related to mental deficiency, a higher proportion of women believe that the decision should belong to the parents alone. In 2005, 66% of the women (78/118) compared to (42/103) 41% in 1999 (p < 0.001), chose to see their fetus after the termination. Postpartum depression score was positive in one third of the 2005 series and higher in younger women. CONCLUSION: Our study suggests that women differentiate between various decision-making actors depending on the type of pregnancy termination. The differences observed between 1999 and 2005 suggest a strong interaction between women's experiences, legislation and practices.

Breaking bad news during prenatal care: a challenge to be tackled.

Communicating an unfavorable diagnosis during prenatal care is a growing challenge in clinical practice, as more and more tests are being performed to screen for the main conditions affecting the pregnant woman and her fetus. The way patients receive and subsequently deal with bad news is directly influenced by how the news is communicated by the attending physician. Unfortunately, physicians receive little or no training in communicating bad news, and they generally feel quite uncomfortable about doing so. Although many physicians consider the saying that "there's no good way to break bad news" to be the truth, the maxim does not reflect the true picture. The scope of this article is to discuss, in light of the scientific literature and the experience of fetal medicine services, some recommendations that can help to deal with these difficult moments and improve patient care for the remainder of the pregnancy.

Breaking bad news during prenatal care: a challenge to be tackled / A comunicação de más notícias durante o pré-natal: um desafio a ser enfrentado

Communicating an unfavorable diagnosis during prenatal care is a growing challenge in clinical practice, as more and more tests are being performed to screen for the main conditions affecting the pregnant woman and her fetus. The way patients receive and subsequently deal with bad news is directly influenced by how the news is communicated by the attending physician. Unfortunately, physicians receive little or no training in communicating bad news, and they generally feel quite uncomfortable about doing so. Although many physicians consider the saying that "there's no good way to break bad news" to be the truth, the maxim does not reflect the true picture. The scope of this article is to discuss, in light of the scientific literature and the experience of fetal medicine services, some recommendations that can help to deal with these difficult moments and improve patient care for the remainder of the pregnancy.

A comunicação de diagnósticos durante o pré-natal é um desafio crescente na prática clínica à medida que se realizam cada vez mais exames para o rastreio das principais patologias que acometem as gestantes e seus fetos. A recepção de uma má notícia e sua posterior elaboração pela paciente serão diretamente influenciadas pelo modo como ela foi comunicada pelo profissional assistente. Infelizmente, os médicos recebem pouco ou nenhum treinamento para transmitir más notícias e, em geral, sentem-se extremamente desconfortáveis com isso. Embora a máxima "não existe uma maneira boa de dar uma notícia ruim" seja admitida como verdade por muitos médicos, ela não é representativa da realidade. O objetivo deste artigo é discutir à luz da literatura científica e da prática em centros de medicina fetal algumas recomendações que podem facilitar a vivência desses momentos difíceis e melhorar o cuidado com os pacientes para o prosseguimento da gestação.

Successful treatment of a severe second trimester fetomaternal hemorrhage by repeated fetal intravascular transfusions.

OBJECTIVE: It was the aim of this study to report a case of fetomaternal hemorrhage (FMH) that was successfully treated with fetal intravascular transfusions in which the middle cerebral artery peak systolic velocity (MCA-PSV) detected fetal anemia. METHODS: A massive FMH occurred twice in a healthy 33-year-old pregnant woman at 26 and 29 weeks of gestation with no evident cause. Four repeated intravascular transfusions were performed. The MCA-PSV increased in the presence of anemia and decreased following correction of fetal hematocrit. RESULTS: A healthy neonate was delivered at 33 weeks of gestation. CONCLUSION: MCA-PSV detected fetal anemia both before the first transfusion and following the next intravascular transfusions. In our case, the change in fetal blood viscosity following transfusion with adult blood did not affect the MCA-PSV value for detection of fetal anemia.

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand-receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations.

Alphafoetoprotein and acetylcholinesterase in amniotic fluid as a factor suggesting fetal skin and nerve lesions in a case of congenital varicella syndrome.

BACKGROUND: Prenatal care of pregnant women exposed to varicella skin rash during the first half of pregnancy remains a frequent concern in countries that do not have access to systematic vaccination. The frequency of maternofetal transmission is low. Ultrasound is the usual tool for prenatal survey of exposed fetuses. But many anomalies due to VZV infection are not accessible to ultrasound alone. CASE REPORT: We review a case in which the diagnosis of fetal infection suspected due to transient fetal bowel hyperechogenicity was confirmed in amniotic fluid by molecular biology (PCR). RESULTS: An unusual elevation of alphafoetoprotein in maternal blood and in amniotic fluid was associated with inguinal skin, muscular and nerve destruction. CONCLUSION: In fetuses diagnosed with in utero varicella infection, in addition to a precise diagnosis and follow-up, we suggest that elevated AFP levels in maternal blood and amniotic fluid together with the presence of acetylcholinesterase in amniotic fluid may be related to lesion of fetal skin and nerves.

Prenatal diagnosis of zygosity by fetal DNA analysis, a contribution to the management of multiple pregnancies. A series of 31 cases.

OBJECTIVE: To evaluate the contribution of prenatal diagnosis of zygosity by fetal DNA analysis to the management of multiple pregnancies. METHODS: Between March 1999 and March 2000, 31 same-sex multiple pregnancies, were referred to our Institute during their second trimester to have amniocentesis done. Fetal DNA variants were studied in addition to karyotype. The main indications for amniocentesis were fetal growth discordance, fetal malformations or selective pregnancy termination. Zygosity results were compared to the first-trimester ultrasound diagnosis. RESULTS: 21 out of the 31 multiple pregnancies were dizygous, and 10 out of the 31 pregnancies were monozygous. First-trimester ultrasound provided information on chorionicity only in 24 out of the 31 cases (77%). Of these 24 reports, 21 proved to be correct (87.5%). Moreover, in 2 cases among 14 pregnancies with growth discordance, DNA analysis ruled out a twin-to-twin transfusion syndrome, while ultrasound could not yield a conclusion. In 2 twin pregnancies with fetal malformations affecting one of the fetuses, DNA analysis made it possible to assess the risk for the other twin. In the 5 cases leading to selective termination, prenatal diagnosis of zygosity had a decisive value for the surviving fetus. CONCLUSION: Fetal DNA analysis is a simple and highly useful test for prenatal diagnosis of zygosity in the management of complicated multiple pregnancies.