Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives (original) (raw)
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Meckel-Gruber syndrome: a rare and lethal foetal anomaly
International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2020
Meckel-Gruber syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other congenital malformations. The incidence of Meckel-Gruber syndrome ranges between 1 in 13,000 to 4,00,000 live births. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features. A case is presented that describes a baby with ambiguous genitalia, who presented with the triad of Meckel-Gruber syndrome. The baby died shortly after birth.
Meckel Gruber Syndrome diagnosed in two consecutive pregnancies
Proceedings in Obstetrics and Gynecology, 2015
Meckel Gruber syndrome is a lethal, autosomal recessive, multisystemic disorder that is associated with a mutation affecting ciliogenesis. In this report, we present two consecutive pregnancies of a woman complicated with MKS. In the first pregnancy with MKS, the amniotic fluid index was under 1 cm with bilateral polycystic fetal kidneys. Postabortion macroscopic examination of the first fetus revealed multiple congenital anomalies including occipital encephalocele, axial polydactyly and pes equinovarus. Ultrasound examination during the second gestation revealed a singleton pregnancy complicated by MKS. There were multiple congenital anomalies including an occipital encephalocele, polycystic and horseshoe shaped kidneys, axial polydactyly, cleft lip and palate.
P19.06: Meckel Gruber syndrome: prenatal diagnosis and autopsy findings
Ultrasound in Obstetrics & Gynecology, 2012
OBJECTIVE: To analyze prenatal sonographic anomalies detected in fetuses with Meckel Gruber syndrome (MGS), and to correlate these anomalies with autopsy findings. STUDY DESIGN: In a 4-year long prospective study, ultrasound findings were compared with fetal autopsy findings in eight fetuses with MGS out of 107 second-trimester termination of pregnancy (TOP) cases due to fetal malformation diagnosed by second trimester-ultrasound examination at a tertiary referral center. RESULTS: Eight prenatally diagnosed fetuses with MGS were analyzed. Seven cases had classical clinic triad. One case had only polycystic kidneys and polydactyly. Fetal autopsy confirmed all prenatally diagnosed findings associated with MGS; fetal examination added polydactyly in two prenatally undiagnosed cases. Hepatic lesions were found in four cases which were determined during the histologic examination. CONCLUSION: Ultrasonographic findings of MGS allow for diagnosis of the most cases. However autopsy may be valuable for confirmation of the diagnosis and to evaluate the recurrence risk in future pregnancies.
A rare case of Meckel Gruber syndrome
International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2019
Meckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder. It is characterized by triad of features having occipital meningoencephalocele, polycystic kidneys and post-axial polydactyly. We report an antenatal patient detected with occipital meningoencephalocele in foetus on early anomaly scan at 15 weeks of gestation followed by foetal MRI which revealed the typical triad features strongly suggestive of MGS. The patient opted for medical termination of pregnancy and the abortus was autopsied, with the permission of the patient, for detailed evaluation of anomalies which were consistent with MGS. This case highlights the importance of a detailed foetal evaluation antenatally to detect anomalies which are incompatible with life and proper diagnosis as it has bearing on patient’s future obstetric outcome.
Meckel-Gruber Syndrome-A Rare Case Report
IOSR Journals , 2019
Introduction: Meckel-Gruber Syndrome was first described by J R Meckelin the year 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly.Any two of these features with a normal karyotype are diagnostic of this syndrome. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at around 15 weeks of gestation based on ultrasonographic findings (encephalocele, polycystic kidneys) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS).The patient was counseled regarding the lethal outcome of MGS. Fortunately, the family agreed for the termination of pregnancy.. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselors should strictly give information about the recurrence risk for the next pregnancies.
Meckel Gruber Syndrome: Case Report
Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies.
First trimester diagnosis of Meckel Gruber syndrome in pregnancy
PubMed, 2004
Meckel Gruber syndrome was originally described by Meckel in 1822, later by Gruber and more recently by Opitz and Howe. 1 It is a lethal autosomal recessive disorder characterized by the triad of encephalocele, polycystic kidneys and polydactyly. Prenatal ultrasonographic diagnosis of this condition has been reported extensively during the second and third trimeter. In the low risk population the estimated prevalence of the condition is about 1 in 20,000 pregnancies. 2 The disorder is more frequently encountered in the children of consanguineously married couples. The prevalence of this disorder in Pakistan is expected to be higher as the recent Pakistan Demographic and Health. Survey (DHS) shows that almost two-thirds of marriages in Pakistan are consanguineous. 3 A case of Meckel Gruber Syndrome diagnosed by ultrasound examination is presented.
Meckel Gruber Syndrome, A Case Report
Organogenesis, 2015
Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies.
European Journal of Human Genetics, 2014
Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.
The Case of Recurrent Lethal Fetal Syndrome: Meckel–Gruber Syndrome
Journal of SAFOG with DVD, 2017
Meckel-Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive at a working diagnosis of MGS. We report a case of MGS in a family with a history suggestive of multiple affected fetuses previously. Early diagnosis at 13 weeks gestation was made on antenatal ultrasound examination and the findings were confirmed on postabortal autopsy.