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1.
J Community Genet ; 13(3): 303-311, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35179721

RESUMO

Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes toward pregnancy termination for fetal indications, but a dearth of published data exists on actual behavior and uptake. This study reports on all prenatal diagnosis requests for single gene disorders, from the Sultanate of Oman, over 9 years. A retrospective study was conducted during which the medical records of all women who performed prenatal diagnoses for single gene disorders were reviewed. A total of 148 invasive procedures were performed for 114 families. The total number of yearly requests for prenatal diagnosis increased exponentially from three in 2012 to 21 in 2020. Sixty-four different diagnoses were tested for with the majority being autosomal recessive in nature. Seventy-one percent (28/39) of cases where an affected pregnancy was identified were terminated. Fifty-two of the 114 women (45.6%) repeated prenatal diagnosis in a future pregnancy. Seventy-two couples (63%) were consanguineous parents related as second cousins or closer. The majority of tests performed were for couples from Muscat (27%), Albatinah (27%), and Alsharqiya (20.3%) governorates in Oman. The findings of this study provide evidence that prenatal diagnosis is an acceptable reproductive option to prevent the occurrence of genetic disorders that meet termination eligibility criteria as outlined by the Islamic Jurisprudence (Fiqh) Council Fatwa, among Omani Muslim couples.

2.
Turk J Pediatr ; 61(6): 941-945, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32134590

RESUMO

Al Yaqoubi HN, Fatema N, Al Fahdi BS. A case of craniopagus parasiticus: an antenatal diagnosis by ultrasound screening at 16 weeks of gestation and a literature review of recently reported cases. Turk J Pediatr 2019; 61: 941-945. Craniopagus parasiticus (CP) is a rare type of malformation of conjoined twins, with one degenerated or underdeveloped parasite twin united at the cranium with the other fully developed twin. Only a handful of cases have been documented in the literature to date. The incidence of this rare deformity is approximately 4 to 6 out of every 10,000,000 live births. We report on a case of CP, diagnosed at 16 weeks of gestation by ultrasound screening. To the best of our knowledge, the case that we present is the first CP case that was diagnosed at such an early gestational age. The formed fetus was found to harbour complex cardiac anomalies. In view of poor prognosis of survival after delivery and upon permission from the couple, the pregnancy was terminated at 17 weeks of gestation.


Assuntos
Anormalidades Teratoides Graves/diagnóstico , Doenças em Gêmeos/diagnóstico , Feto/anormalidades , Gêmeos Unidos , Ultrassonografia Pré-Natal/métodos , Evolução Fatal , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Adulto Jovem
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