scholarly journals A case of prenatal diagnosis of meckel-gruber syndrome in one of the dizygotic twin of a naturally conceived pregnancy

2021 ◽  
Author(s):  
Akshay Rohatgi ◽  
Anupama Tandon
Keyword(s):  
Prenatal Diagnosis ◽  
Vaginal Delivery ◽  
Twin Pregnancy ◽  
Hepatic Cyst ◽  
The Other ◽  
Normal Vaginal Delivery ◽  
Dizygotic Twin ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Normal Twin

Meckel-Gruber syndrome in one twin of a naturally conceived dizygotic twin pregnancy is largely unknown and has not been reported till date. This report illustrates the sonographic features in a case of 20-week twin pregnancy where one twin had an occipital encephalocele, bilateral enlarged and cystic kidneys, hepatic cyst and oligohydramnios but the other twin was normal. The affected twin succumbed within few days after normal vaginal delivery while the normal twin survived and is healthy.

Early ultrasound prenatal diagnosis of the Meckel — Gruber syndrome in combination with 47,XYY

2018 ◽  
Author(s):  
N.P. Veropotvelyan , E.S. Savarovskaya , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Autosomal Recessive Disorder ◽  
Chorionic Villus Sampling ◽  
Previous Pregnancy ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Posterior Fossa Cyst ◽  
The Family ◽  
Hands And Feet

Meckel — Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder characterised by occipital encephalocele, polydactyly and bilateral dysplastic cystic kidneys. A case of prenatal diagnosis of MGS at 12 weeks of gestation is described. The previous pregnancy was terminated at 20 weeks due to polycystic kidneys of the fetus. The transabdominal scan of the present pregnancy revealed occipital encephalocele of the fetus. There was no oligohydramnios, but the fetal urinary bladder was not visualised and both kidneys were enlarged. The transvaginal sonogram demonstrated intracranial space dilatation (6 mm) and encepalocele with posterior fossa cyst, protrunding from the occipital bone deffect. The kidneys had the polycystic structure suggesting cystic dysplasia and there was no evidence of the hands and feet polydactyly. Based on these findings the diagnosis of the MGS was made. Chorionic villus sampling revealed 47,XYY. The family elected to terminate pregnancy and the diagnosis was confirmed by autopsy.

RELATIONSHIP OF THE SEX OF THE FOETUS TO THE AMOUNT OF HUMAN CHORIONIC GONADOTROPHIN IN PLACENTAE; SINGLE AND DIZYGOTIC TWIN PLACENTAE COMPARED

1975 ◽  
Vol 64 (1) ◽  
pp. 117-123 ◽  
Author(s):  
BRUCE HOBSON ◽  
LEIF WIDE
Keyword(s):  
Twin Pregnancy ◽  
Geometric Mean ◽  
Chorionic Gonadotrophin ◽  
Human Chorionic Gonadotrophin ◽  
Dizygotic Twin ◽  
Male And Female ◽  
Mean Values ◽  
Significant Difference ◽  
Relationship Of ◽  
Normal Twin

SUMMARY Human chorionic gonadotrophin (HCG) was assayed by biological and radioimmunological methods in placentae from 16 women with a normal twin pregnancy. When the concentration and total amount of HCG in placentae was related to the sex of the twin foetus, no significant difference between 'male' and 'female' placentae was found. This is contrary to findings that there is a significant (P < 0·005) difference in the concentration of HCG per g and per placenta of singletons at term. A comparison between the grouped geometric mean data from bioassays shows that the amount of HCG per g and per placenta falls between the geometric mean values for 'male' and 'female' singleton placentae.

scholarly journals Postpartum spontaneous bladder rupture

2019 ◽  
Vol 8 (9) ◽  
pp. 3794
Author(s):  
Vijay Zutshi ◽  
Sana Tiwari ◽  
Renu Arora
Keyword(s):  
Early Diagnosis ◽  
Vaginal Delivery ◽  
Kidney Function ◽  
Rare Complication ◽  
The Other ◽  
Abdominal Distention ◽  
Bladder Rupture ◽  
Normal Vaginal Delivery ◽  
Spontaneous Bladder Rupture ◽  
Function Test

Spontaneous bladder rupture after normal vaginal delivery is a rare complication. Patients may present with abdominal distention, fever, haematuria, oliguria and deranged KFT (kidney function test). We are reporting two cases of primigravida with postpartum bladder rupture, one case was diagnosed at laparotomy and the other preoperatively. A patient who presents with retention of urine, haematuria ascites and deranged KFT after uneventful normal vaginal delivery, spontaneous bladder rupture should be suspected. Early diagnosis and management can decrease the morbidity.  

scholarly journals Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy

2016 ◽  
Vol 28 (4) ◽  
pp. 176-179 ◽  
Author(s):  
Pei-Yi Chen ◽  
Jui-Hung Yen ◽  
Ching-Feng Cheng ◽  
Pao Chu Chen ◽  
Yi-Shian Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Twin Pregnancy ◽  
Derivative Chromosome ◽  
Dizygotic Twin

Meckel-Gruber Syndrome in One of Nonidentical Twins: Short Case Report

1987 ◽  
Vol 36 (4) ◽  
pp. 571-572 ◽  
Author(s):  
I.I. Juabeh ◽  
A. Thalji ◽  
A. Dudin
Keyword(s):  
Vaginal Delivery ◽  
School Teacher ◽  
Normal Vaginal Delivery ◽  
Spontaneous Vaginal Delivery ◽  
Occipital Encephalocele ◽  
Healthy Female ◽  
Good General Condition ◽  
History Of ◽  
Second Twin

A male twin pair, the result of 34 weeks gestation by dates, 38 weeks by estimation, was delivered at our hospital by normal vaginal delivery on 02.01.87.The mother is a 27-year old, A,Rh+ healthy school teacher. She was married to her 33-year old, first-degree cousin in 1981. They have no family history of malformed newborns or other inherited diseases.The first pregnancy of this gravida-four mother was in 1982 and resulted in a full-term, healthy female weighing 3.5 kg. The second pregnancy was in 1984 and resulted in a 36-weeks, alive female with occipital encephalocele, who died 12 hr after birth. It is not known if this newborn had other accompanying congenital anomalies. The third pregnancy was in 1985, and the fetus was aborted at 12 weeks gestation because of anencephaly, which was diagnosed by ultrasound.The last pregnancy was followed at a private clinic without doing ultrasound. It was not complicated by any illness, drag intake, or X-ray exposure.After 34 weeks of gestation, male twins were delivered by spontaneous vaginal delivery. Each one had his own placenta and umbilical cord. The first twin was a healthy male weighing 2.4 kg, with Apgar score 7/8, who was discharged home in a good general condition, and was doing well when he was seen at follow up one month later.The second twin was a male weighing 2.15 kg, and having a length of 48 cm. We was microcephalic with a head circumference of 28 cm.

scholarly journals Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica)

2012 ◽  
Vol 13 (5) ◽  
pp. 713-715 ◽  
Author(s):  
B Prasanna Shetty ◽  
Nandakishore Alva
Keyword(s):  
Vaginal Delivery ◽  
Twin Pregnancy ◽  
Autosomal Recessive ◽  
Live Births ◽  
Occipital Encephalocele ◽  
Face Presentation ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Classical Triad ◽  
Present Pregnancy

ABSTRACT Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 18221 and GB Gruber in 1934.2 More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births.3 A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians. How to cite this article Shetty BP, Alva N, Patil S, Shetty R. Meckel- Gruber Syndrome (Dysencephalia Splanchnocystica). J Contemp Dent Pract 2012;13(5):713-715.

scholarly journals Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy

2013 ◽  
Vol 84 (11) ◽  
Author(s):  
Józef Krawczyk ◽  
Dariusz Borowski ◽  
Piotr Węgrzyn ◽  
Mirosław Wielgoś ◽  
Krzysztof Drews
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Twin Pregnancy ◽  
Dizygotic Twin
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