Prenatal diagnosis of sirenomelia. 1989

M Sirtori, and A Ghidini, and R Romero, and J C Hobbins
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut 06510.

Prenatal sonographic findings of sirenomelia (or mermaid fetus) were retrospectively reviewed in eleven proven cases. Sonography showed oligohydramnios in all the cases, five (45%) of which had severe oligohydramnios that limited prenatal diagnosis by poor visibility. In five cases (45%), sirenomelia was correctly diagnosed by ultrasound; in the remainder, only bilateral renal agenesis was identified. All eleven fetuses had other associated malformations: congenital heart defects (4), skeletal deformities (10), and abdominal wall defects (4). Death resulted from termination of pregnancy in six cases and stillbirth in three cases. Two newborns died at 24 and 36 hours of neonatal life, respectively. We concluded that some cases of sirenomelia can be detected on prenatal sonograms by demonstration of a single lower extremity, oligohydramnios, and bilateral renal agenesis. Sirenomelia is a lethal condition and can be detectable in the second trimester of pregnancy, allowing for termination of pregnancy.

UI MeSH Term Description Entries
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004480 Ectromelia Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia. Amelia,Congenital Limb Reduction Deformities,Congenital Limb Reduction Deformity,Hemimelia,Phocomelia,Sirenomelia,Fused Legs and Feet,Mermaid Malformation,Mermaid Syndrome,Sirenomelia Sequence,Sirenomelus,Malformation, Mermaid,Sequence, Sirenomelia,Sirenomelia Sequences,Syndrome, Mermaid
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000653 Amniotic Fluid A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS). Amniotic Fluid Index,Amniotic Fluid Indices,Amniotic Fluids,Fluid Index, Amniotic,Fluid Indices, Amniotic,Fluid, Amniotic,Fluids, Amniotic,Index, Amniotic Fluid,Indices, Amniotic Fluid
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D014463 Ultrasonography The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic

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