Congenital deficiency of α-fetoprotein

Greenberg, Frank; Faucett, Andrew; Rose, Esmie; Bancalari, Lisa; Kardon, Nataline; Mizejewski, Gerald J.; Haddow, James E.; Alpert, Elliot

doi:10.1016/s0002-9378(11)91441-0

Cited by 19 publications

(6 citation statements)

References 2 publications

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“…Our patients were characterized by normal fetal karyotype and absence or diminished levels of AFP in amniotic fluid and peripheral blood drawn from the mother and newborn after birth. It is worth noting that the levels of MSAFP of our second patient were undetectable also in the two previous pregnancies, as did the patient reported by Greenberg et al [1992].…”

Section: Discussionsupporting

confidence: 87%

“…Congenital absence of AFP has been rarely reported earlier (MIM #104150, gene map locus 4q11‐q13). Greenberg et al [1992] reported on two infants who had been diagnosed with this entity.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital absence of AFP has been rarely reported (MIM #104150). Greenberg et al [1992] reported on two infants who had been diagnosed with this entity. The first had a normal fetal karyotype, however, the amniotic fluid AFP (AFAFP) was unmeasureable.…”

Section: Introductionmentioning

confidence: 99%

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Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta

Sharony

Amiel

Bouaron

et al. 2003

American J of Med Genetics Pt A

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In this study we describe two patients with congenital absence of alpha-fetoprotein (AFP). The pathological examination results, including an immunohistochemical stain, which define qualitatively the levels of AFP detected by the biochemical studies and the comparative genomic hybridization (CGH) are enclosed. A description of the suggested functions of AFP and the means of its production are set forth. An explanation is suggested for the lack of symptoms in a newborn with undetectable levels of AFP and the mechanism by which this condition might occur.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

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Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta

Sharony

Amiel

Bouaron

et al. 2003

American J of Med Genetics Pt A

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“…Rarely, pregnancies may produce no msAFP, and this is not known to be associated with any risk of adverse outcome. 69…”

Section: Results Reportingmentioning

confidence: 99%

“…Recently, however, three cases have been documented where the fetus produced minimal or no AFP. 27 All three cases went to term and were associated with healthy newborns of normal weight. As of the present time, a functional role for AFP during fetal development has not been clearly defined.…”

Section: Background Clinical Description Of Neural Tube Defectsmentioning

confidence: 96%

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Palomaki

Bupp

Gregg

et al. 2020

Genetics in Medicine

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Disclaimer This technical standard is designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to this standard is voluntary and does not necessarily assure a successful medical outcome. This standard should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with this standard. They also are advised to take notice of the date any particular standard was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based screening test. The basic screening methodology was described in the late 1970s and screening programs were active a few years later. By identifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% of anencephaly can be identified as early as 16 weeks gestation. The interpretation of msAFP levels is complicated by the need to consider multiple factors such as gestational age, maternal weight, maternal race, multiple gestations, and more. Testing for AFP and acetylcholinesterase in amniotic fluid and/or identification of the lesion by targeted ultrasound is considered diagnostic of ONTD. When a diagnosis is made, options include termination, surgery after delivery, or in utero surgery, depending on factors such as location and size of the defect, and the presence of any additional anomalies. Screening for ONTD should be performed as part of a comprehensive program linking primary obstetrical care providers, laboratorians, and high-risk clinicians.

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Congenital deficiency of AFP and Down syndrome screening

Sher

Shohat

1997

Prenat. Diagn.

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Congenital deficiency of α-fetoprotein

Cited by 19 publications

References 2 publications

Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta

Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Congenital deficiency of AFP and Down syndrome screening

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