The female reproductive tract receives the oocytes for fertilization, supports the development of the fetus and provides the passage for birth. Although abnormalities of this organ system can result in infertility and even death, until recently relatively little was known about the genetic processes that underlie its development. By drawing primarily on mouse mutagenesis studies and the analysis of human mutations we review the emerging genetic pathways that regulate female reproductive-tract formation in mammals and that are implicated in congenital abnormalities of this organ system. We also show that these pathways might be conserved between invertebrates and mammals.

/pdf/developmental-genetics-of-the-female-reproductive-tract-in-1pyqh1855p.pdf

Developmental genetics of the female reproductive tract in mammals

This paper reviews 47 series of hydrops fetalis (804 cases) and 610 individual cases published since 1980. From this large number of cases, guidelines are derived for prenatal diagnosis and management.

Hydrops revisited: literature review of 1,414 cases published in the 1980s.

Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS and mutations of these genes comprise the underlying defect in 70% of the patients. Here, we will provide a brief review of the clinical features of CdLS, summarize the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling.

Cornelia de Lange syndrome.

Congenital diaphragmatic defects (CDDs) may occur in malformation syndromes of varied causes. Syndromic cases of CDDs due to chromosomal defects, autosomal recessive, autosomal dominant, or X-linked inheritance have been described. In order to determine the frequency and nature of syndromes, malformations, and chromosome abnormalities associated with CDDs, we reviewed the records of all patients with CDDs evaluated over a 4-year period. During the 4-year interval, a total of 60 patients was evaluated. Of these, 29 had a therapeutic or spontaneous abortion, and 31 received postnatal care. On prenatal ultrasonography, 20 of 60 (33%) of patients with CDDs had additional anomalies. Additional anomalies, besides CDDs, were present in 15 of 31 (48%) of liveborn patients on newborn evaluation. In total, 16 patients with multiple anomalies were evaluated. Of these, 12 of 16 (75%) had additional abnormalities detected by prenatal ultrasonography. The 4 of 16 (25%) without additional anomalies on prenatal sonography had multiple anomalies found neonatally, lethal multiple pterygium syndrome being diagnosed in one case. Prenatal chromosome analysis was performed in 7 of 16 patients, and all had postnatal karyotypes. All initial karyotypes were normal. Tetrasomy 12p was documented on postnatal fibroblast analysis in one case who had percutaneous umbilical blood sampling (PUBS). Syndromes diagnosed postnatally in 7 of 16 patients (44%) include: Fryns syndrome (2), Simpson-Golabi-Behmel syndrome (2), tetrasomy 12p (1), Brachmann-de Lange syndrome (1), and lethal multiple pterygium syndrome (1). We were unable to make a specific diagnosis in 9 of 16 patients (56%) with multiple malformations. In patients with CDDs, a normal prenatal karyotype, especially if obtained by PUBS, and absence of other detected abnormalities by fetal ultrasonography, do not exclude the presence of other major anomalies, including chromosome abnormalities and severe multiple malformation syndromes.

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.

Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.

Fryns syndrome: a review of the phenotype and diagnostic guidelines.

Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.

A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

A 20-week-old foetus with 8p trisomy, as the unbalanced product of a maternal 7q/8p translocation (karyotype: 46,XX,t(7;8)(q34,p12) is reported. Internal malformations include agenesis of the gall-bladder, left heart hypoplasia and pancreas annulare. Moreover, histologic examination revealed a "neuroblastoma in situ". The possible etiologic relationship between the neuroblastoma and the chromosomal abnormality is briefly discussed.

8p trisomy in a malformed foetus

In the last issue of your journal, we read with interest the paper by Zerres et al. (1985) on \"Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?\" In this report the authors described the prenatal echographic diagnosis at 32 weeks pregnancy of an unusually early manifestation of autosomal dominant polycystic kidney disease (ADPKD), confirmed by pathological diagnosis postmortem of cystic kidneys, Potter type III. The affected fetus was diagnosed in the third pregnancy of a couple whose first child died at birth with \"Potter syndrome\" and greatly enlarged cystic kidneys. Ultrasonographic examination of the parents confirmed the diagnosis of ADPKD in the father. Cystic renal disease had also been diagnosed in his younger brother some years before. In 1984, young parents, both 24 years old, were referred for genetic counseling to the Leuven Center for Human Genetics after the birth of a first child, a male, who died shortly after birth with a large, protruding abdomen and greatly enlarged cystic kidneys. Pathological examination confirmed the diagnosis of cystic kidneys, Potter type III, with cysts in all parts of the nephron and collecting ducts. After this diagnosis of early manifestations of ADPKD in this deceased newborn, ultrasonographic renal examination of both parents was performed, and the diagnosis of ADPKD was confirmed in the father. In subsequent genetic counseling, the presence of ADPKD in the husband with early manifestation in the first child was explained, and the possibility of prenatal echographic followup in a second pregnancy was offered. A first echography was

Mid-trimester ultrasonographic diagnosis of early manifesting "adult" form of polycystic kidney disease.

Cystic hygroma and hydrops fetalis in dup(11p) syndrome.

An identical pair of twins with the tetraphocomelia-cleft palate syndrome is presented. It is hypothesized that Roberts' syndrome and the pseudothalidomide syndrome, previously reported as separate entities, represent different manifestations of the same autosomal, recessively inherited malformation pattern.

The tetraphocomelia-cleft palate syndrome in identical twins.

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