Biomaterial Database

Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy. 1988

L Piceni Sereni, and C Bachmann, and U Pfister, and M Buscaglia, and U Nicolini

Laboratory for Metabolic Diseases, I.C.P., Milano, Italy.

In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.

UI	MeSH Term	Description	Entries
D008025	Ligases	A class of enzymes that catalyze the formation of a bond between two substrate molecules, coupled with the hydrolysis of a pyrophosphate bond in ATP or a similar energy donor. (Dorland, 28th ed) EC 6.	Ligase,Synthetases,Synthetase
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
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
D011262	Pregnancy Trimester, Second	The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.	Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
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
D002222	Carbamoyl-Phosphate Synthase (Ammonia)	An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea cycle. Absence or lack of this enzyme may cause CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE. EC 6.3.4.16.	Carbamoyl Phosphate Synthetase I,CP Synthase I,Carbamoyl-Phosphate Synthetase (Ammonia),Carbamoyl-Phosphate Synthetase I,Carbamoylphosphate Synthetase I,Carbamyl Phosphate Synthase (Ammonia),Carbamyl-Phosphate Synthase (Ammonia),Synthase I, CP,Synthetase I, Carbamoyl-Phosphate,Synthetase I, Carbamoylphosphate
D005260	Female		Females
D005333	Fetus	The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN.	Fetal Structures,Fetal Tissue,Fetuses,Mummified Fetus,Retained Fetus,Fetal Structure,Fetal Tissues,Fetus, Mummified,Fetus, Retained,Structure, Fetal,Structures, Fetal,Tissue, Fetal,Tissues, Fetal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001707	Biopsy, Needle	Removal and examination of tissue obtained through a transdermal needle inserted into the specific region, organ, or tissue being analyzed.	Aspiration Biopsy,Puncture Biopsy,Aspiration Biopsies,Biopsies, Aspiration,Biopsies, Needle,Biopsies, Puncture,Biopsy, Aspiration,Biopsy, Puncture,Needle Biopsies,Needle Biopsy,Puncture Biopsies