Limb Deficiencies in Newborn Infants

Abstract

ABSTRACT. Objective. The prevalence rate of all types of limb reduction defects in general and those that potentially are caused by vascular disruption in particular is needed to provide a baseline for the evaluation of infants who are exposed in utero to teratogens that cause vascular disruption. The objective of this study was to determine this prevalence rate.Methods. All infants with any limb deficiency among 161 252 liveborn and stillborn infants and elective terminations were identified in a hospital-based Active Malformations Surveillance Program in Boston in the years 1972 to 1974 and 1979 to 1994. An extensive search was made to identify infants who were missed by the Surveillance Program; an additional 8 infants (7.3% of total) were identified. The limb reduction defects were classified in 3 ways: 1) by the anatomic location of the defect, that is longitudinal, terminal, intercalary, etc; 2) for infants with absence/hypoplasia of fingers or toes, a tabulation of which digit or digits were affected; and 3) by apparent cause.Results. The prevalence rate for all types of limb deficiency was 0.69/1000. The apparent causes included single mutant genes, familial occurrence, and known syndromes (24%); chromosome abnormalities (6%); teratogens (4%); vascular disruption (35%); and unknown cause (32%).Conclusions. A hospital-based surveillance program can be used to establish the prevalence of limb reduction defects, if ascertainment is extended to include elective terminations for fetal abnormalities. An apparent cause can be established for most limb defects when the clinical findings are used rather than reliance only on the International Classification of Diseases, Ninth Revision, codes of the discharge diagnoses. The prevalence rate of limb reduction defects as a result of presumed vascular disruption was 0.22/1000. Pediatrics 2001;108(4). URL: http://www.pediatrics.org/cgi/content/full/108/4/e64; limb deficiency, vascular disruption.

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

“…Consecutive cases of CDH among electively terminated fetuses, liveborns (<5 days of age), stillborns, and neonatal deaths were included. Additional details about the Surveillance Program have been provided elsewhere [Nelson and Holmes, 1989;McGuirk et al, 2001]. The diagnosis of CDH, as well as the presence of additional major malformations, was established from a review of prenatal medical records, postnatal medical records, and laboratory tests.…”

Providing family-centred care for rare diseases in maternity services: Parent satisfaction and preferences when dysmelia is identified

“…Up to 8,000 rare diseases exist altogether 2 and when aggregated, they affect 25 million people in the US 3 and 29 million in the EU 2 . Dysmelia refers to a group of rare diseases involving congenital limb reduction differences, occurring in around 6-8 in 10,000 births [4][5][6] . It is identified via ultrasound in 35-50% of cases 5,7 , and if diagnosed at this time, parents will experience uncertainty about the likely degree of disability and a potentially higher risk of fetal demise or stillbirth 4,7 .…”

“…It is identified via ultrasound in 35-50% of cases 5,7 , and if diagnosed at this time, parents will experience uncertainty about the likely degree of disability and a potentially higher risk of fetal demise or stillbirth 4,7 . They may also need to make a decision regarding terminating the pregnancy, and termination rates have been reported to vary across specific diagnostic groups, ranging from 20% to 50% [4][5][6] . If identified postnatally, parents may need rapid access to information and support, in order to enable them to provide care for a child with a disability 8 .…”

“…At the time that a limb difference is identified, family-centred care is necessary to enable optimal parental decision making and care provision for infants with dysmelia. One key need for parents at this point is the identification of a specific diagnosis, as these have different associated aetiologies, symptom profiles and expected outcomes, which can influence parent decisions prenatally, and inform the healthcare needs that both they and the infant will have postnatally 5,6 . However, due to a scarcity of relevant knowledge in local health services, the identification and correct specific diagnosis of dysmelia and other rare diseases is delayed, with deleterious physical, cognitive and psychological consequences 10 .…”

Longitudinal deficiency of upper limb: similar case presentation of two subjects with unilateral ulnar hemimelia, carpal and metacarpal deficiency, and severe oligodactyly

“…Longitudinal postaxial defects are very rare (prevalence of 8/10,000) [2]. The majority of the cases reported in medical literature are unilateral and sporadic.…”