Biomaterial Database

Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. 1997

J Hyett, and P Noble, and N J Sebire, and R Snijders, and K H Nicolaides

Harris Birthright Research Centre for Fetal Medicine, Kings College Hospital Medical School, London, UK.

This study examines the ultrasonographic features of congenital lethal arthrogryposis. In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension of the knees. In seven (26%) of the cases there was nuchal edema. In two fetuses with arthrogryposis that were examined at 13 weeks of gestation the nuchal translucency thickness was above the 99th centile of the normal range for crown-rump length. In three other women with previously affected pregnancies, ultrasound examination at 10-14 weeks demonstrated normal fetal nuchal translucency thickness and none of these fetuses were subsequently found to have arthrogryposis. These findings suggest that lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at 10-14 weeks of gestation.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D009333	Neck	The part of a human or animal body connecting the HEAD to the rest of the body.	Necks
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
D011261	Pregnancy Trimester, First	The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.	Early Placental Phase,Pregnancy, First Trimester,Trimester, First,Early Placental Phases,First Pregnancy Trimester,First Pregnancy Trimesters,First Trimester,First Trimester Pregnancies,First Trimester Pregnancy,First Trimesters,Phase, Early Placental,Phases, Early Placental,Placental Phase, Early,Placental Phases, Early,Pregnancies, First Trimester,Pregnancy Trimesters, First,Trimesters, First
D005260	Female		Females
D005865	Gestational Age	The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated from the onset of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. It is also estimated to begin from fertilization, estrus, coitus, or artificial insemination.	Embryologic Age,Fetal Maturity, Chronologic,Chronologic Fetal Maturity,Fetal Age,Maturity, Chronologic Fetal,Age, Embryologic,Age, Fetal,Age, Gestational,Ages, Embryologic,Ages, Fetal,Ages, Gestational,Embryologic Ages,Fetal Ages,Gestational Ages
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D001176	Arthrogryposis	Persistent flexure or contracture of a joint.	Amyoplasia Congenita,Arthromyodysplasia, Congenital,Guerin-Stern Syndrome,Myodystrophia Fetalis Deformans,Arthrogryposis Multiplex Congenita,Arthrogryposis Multiplex Congenita (AMC),Congenital Arthromyodysplasia,Congenital Multiple Arthrogryposis,Fibrous Ankylosis of Multiple Joints,Guérin-Stern Syndrome,Otto Syndrome,Rocher-Sheldon Syndrome,Rossi Syndrome,Arthrogryposes,Arthrogryposes, Congenital Multiple,Arthrogryposis Multiplex Congenitas,Arthrogryposis Multiplex Congenitas (AMC),Arthrogryposis, Congenital Multiple,Arthromyodysplasias, Congenital,Congenita, Arthrogryposis Multiplex,Congenita, Arthrogryposis Multiplex (AMC),Congenital Arthromyodysplasias,Congenital Multiple Arthrogryposes,Congenitas, Arthrogryposis Multiplex,Congenitas, Arthrogryposis Multiplex (AMC),Guerin Stern Syndrome,Guérin Stern Syndrome,Multiple Arthrogryposes, Congenital,Multiple Arthrogryposis, Congenital,Multiplex Congenita, Arthrogryposis,Multiplex Congenita, Arthrogryposis (AMC),Multiplex Congenitas, Arthrogryposis,Multiplex Congenitas, Arthrogryposis (AMC),Rocher Sheldon Syndrome,Syndrome, Guerin-Stern,Syndrome, Guérin-Stern,Syndrome, Otto,Syndrome, Rocher-Sheldon,Syndrome, Rossi
D001330	Electronic Data Processing	Applications that store and process large quantities of data.	Automatic Data Processing,Bar Codes,Computer Data Processing,Data Processing, Automatic,Information Processing, Automatic,Optical Readers,Information Processing,Automatic Information Processing,Bar Code,Codes, Bar,Data Processing, Computer,Data Processing, Electronic,Optical Reader,Processing, Automatic Data,Processing, Automatic Information,Processing, Computer Data,Processing, Electronic Data,Processing, Information

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