Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein.

Fitzsimmons, J S; Filshie, G. M.; Hill, Alexander S.; Kime, R. R.

doi:10.1136/jmg.13.5.400

Cited by 14 publications

(2 citation statements)

References 7 publications

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“…where a fetus with a chromosome abnormality has been unexpectedly identified. In addition, there is some evidence that elevated amniotic AFP levels may be associated with chromosomal abnormalities such as Turner syndrome [25] and Trisomy 13 [26].…”

Section: Discussionmentioning

confidence: 99%

A cost‐benefit analysis of prenatal diagnosis for neural tube defects selectively offered to relatives of index cases

1982

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Relatives of patients with neural tube defects (NTD) frequently request prenatal diagnosis for this problem, and it would be helpful to have information on cost-benefit aspects of offering this service to them. A cost-benefit analysis was done for selective prenatal diagnosis offered to parents and aunts of index cases as these are the two groups for which adequate empiric data are available. The results are extrapolated to other relatives. The study concludes that prenatal diagnosis is cost-beneficial if selectively offered for pregnancies where the fetus is a first or second degree relative of an index case. The results are discussed in terms of whether prenatal diagnosis should be offered to all aunts of index cases or only to maternal aunts. The lifetime costs of caring for an individual with spina bifida, in 1980 dollars, was calculated to be approximately $84,000.

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Section: Discussionmentioning

confidence: 99%

A cost‐benefit analysis of prenatal diagnosis for neural tube defects selectively offered to relatives of index cases

1982

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“…As Pilu and Nicolaides noted, "When there is a double maternal chromosome contribution, the pregnancy may persist into the third trimester" [12]. According to various sources, trisomy 13 occurs with a frequency between 1 in 5000 and 1 in 14,500 live-born children [13][14][15][16]. Newborns with trisomy 13 have many abnormalities, involving nearly every organ, as well as developmental delay.…”

mentioning

confidence: 99%

Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

Pawelec¹,

Dżugalik²,

Pietras

et al. 2015

Adv Clin Exp Med

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Patau syndrome was first described in 1960 as a group of birth defects caused by trisomy of chromosome 13 (T13). Providing accurate information and relevant reproductive genetic counseling that would allow parents to make informed decisions is not easily accomplished because of the limited information available prenatally. Only 1/3 of all cases of T13 are diagnosed prenatally, which means it cannot be expected that most cases will be detected early in pregnancy, that the parents will decide to terminate the pregnancy, and that difficulties will be avoided. There is no good prenatal screening for T13, and there are many kinds and degrees of anomalies. About 60% of cases are first detected in the second trimester, and life expectancy is difficult to predict. When patients choose not to terminate pregnancy, or when the pregnancy has progressed to a viable gestational age, pregnancy termination is no longer an option. Also, nowadays 12% of couples choose to continue pregnancy following chromosomal confirmation of a suspected T13. The aim of this work is to eludicate for health care providers what problems they are likely to face in the care of children with T13 and in contact with their parents. It is crucial for the management of each case to discuss neonatal procedures of resuscitation, alternatives to aggressive resuscitation, the possibilities for correcting some of the defects, and to be prepared to guide the parents through the trauma of having a child with a lethal defect (Adv Clin Exp Med 2015, 24, 5, 911-921).

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'Membranous Aplasia Cutis' With Hair Collars

Drolet¹

1995

Arch Dermatol

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Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein.

Cited by 14 publications

References 7 publications

A cost‐benefit analysis of prenatal diagnosis for neural tube defects selectively offered to relatives of index cases

A cost‐benefit analysis of prenatal diagnosis for neural tube defects selectively offered to relatives of index cases

Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

'Membranous Aplasia Cutis' With Hair Collars

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