Early Antenatal Diagnosis Research Articles

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

There is a paucity of data concerning the feasibility of the early antenatal diagnosis of congenital adrenal hyperplasia (CAH). Jeffcoate et al.1 reported elevated amniotic fluid 17-keto-steroid and pregnanetriol levels in a patient at term carrying a fetus with CAH. Nichols2 and Nichols and Gibson3 reported high amniotic fluid pregnanetriol levels in two other patients in term pregnancies. In contrast, Merkatz et al.4 found normal amniotic fluid 17-ketosteroid and pregna-netriol levels in two other patients carrying fetuses with CAH who had repeated amniocenteses at 26, 30, 35, 38, and 33 and 37 weeks gestation. New5 also noted that in his experience, 17-ketosteroid or pregnanetriol levels in amniotic fluid were not useful for the antenatal diagnosis of CAH.

Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida.

Alphafetoprotein (AFP) and beta-trace protein (BTP) concentrations have been measured in amniotic fluids taken from 19 pregnancies where the outcome was an infant with a neural tube defect and from 19 matched controls. There was no significant difference in the mean BTP values for the pathological samples when compared with the controls, and there were no striking differences in the values within individual matched pairs. On the other hand, the mean AFP concentration in the abnormal amniotic fluids was approximately 15 times the mean value found in the controls. Differences within individual pairs were particularly noticeable early in pregnancy. It is concluded that BTP is of no use for the early antenatal diagnosis of anencephaly and spina bifida.

Amniotic fluid alpha2-macroglobulin and the antenatal diagnosis of spina bifida and anencephaly.

Alpha2-macroglobulin (AMG) concentrations have been measured in amniotic fluids from 33 pregnancies where the outcome was an infant with a neural tube defect. AMG ranged from 1.3 to 50 mug/ml in these samples, but was undetectable (is less than 1 mug/ml) in matched controls. Since the abnormal samples included four cases of spina bifida and eight cases of anencephaly before 22 weeks of pregnancy, measurement of AMG concentrations may be useful in the early antenatal diagnosis of neural tube defects. In some cases it gave clearer results than those obtained by measurement of amniotic fluid alphafetoprotein. However, care must be excercised to ensure that amniotic fluids are not contaminated by blood.

Selective treatment of myelomeningocele: To treat or not to treat?

There never was and perhaps never will be a really satisfactory method of treatment for infants born with severe myelomeningocele, nor for the management of their families, in spite of the best technical advances and the most humane attempts. The best hope for the future lies in prevention of conception of such infants, but we are far from that. The next best hope is early antenatal diagnosis so that at least we can prevent the birth of such infants. The recent discovery that abnormally high levels of alpha-fetoprotein are present in the amniotic fluid of women carrying an infant with spinal or cranial dysraphism has already been put to routine practical use.

ALPHA-FETOPROTEIN IN THE ANTENATAL DIAGNOSIS OF ANENCEPHALY AND SPINA BIFIDA

α-fetoprotein (A.F.P.) has been measured in the amniotic fluids of thirty-one pregnancies leading to anencephaly (or anencephaly and spina bifida), three leading to spina bifida, and three leading to hydrocephaly (or hydrocephaly and spina bifida). In the anencephalic cases all A.F.P. concentrations were well above the normal range between 25 and 35 weeks of gestation; after 35 weeks five out of nine cases were clearly above normal. In a single case of spina bifida, where amniotic fluid was obtained at 13 weeks, A.F.P. concentration was four times greater than the highest normal level. After 30 weeks' gestation amniotic fluids from pregnancies leading to spina bifida and hydrocephaly could not be distinguished from normal pregnancies. These results suggest that amniotic-fluid-A.F.P. measurements will be valuable in the early antenatal diagnosis of anencephaly and spina bifida and will enable termination of these pregnancies.

Aids-related kaposi’s sarcoma in a four year old child: the challenge of a missed opportunity

Background: AIDSrelated Kaposi’s sarcoma (KS) is an AIDS-defining illness and is now increasingly recognized in children infected with HIV. Many of these cases are missed due to low index of suspicion. Vertical transmission of HIV is the commonest route of transmission in children and this is preventable by early maternal antenatal diagnosis, early commencement of HAART by the mother and adoption of the safest possible mode of delivery. The index case did not benefit from these services, making her acquire HIV and then develop AIDS-defining illness (KS) at a tender age of 4 years.Aim and objective: The study is aimed at emphasizing the need for all pregnant women to have antenatal screening as soon as pregnancy is confirmed so as to prevent vertical transmission of HIV to the unborn child. It is also aimed at creating awareness in clinical practice so as to increase index of suspicion among clinicians when evaluating chronically ill children.Case Description: GG was a 4year old girl who presented at 108 Nigerian Air force Hospital, Abuja with non-itchy skin rashes of two weeks duration, generalized body swelling, cough and haematochezia of one week duration, and fever of four days duration. She was a paternal orphan having lost her father a year prior to presentation to Acquired immunodeficiency syndrome (AIDS)-related illness. Her mother also tested positive to Human Immunodeficiency virus (HIV) and has been on highly active anti-retroviral therapy (HAART) for a year. Physical examination revealed moderate pallor, bilateral pitting pedal oedema, and matted non-tender peripheral lymphadenopathy. There were papular and nodular skin lesions with a reddish solid lesion on the hard palate. She tested positive to HIV. Abdominal ultrasound scan revealed moderate hepatomegaly with ascites, while chest x-ray showed bilateral interstitial pneumonitis, right hilar lymphadenopathy, right pulmonary nodule and ipsilateral pleural effusion. Excisional biopsy of one of the skin nodules confirmed the diagnosis of Kaposi’s sarcoma. She was commenced on HAART and antibiotics, with a unit of blood transfused. Her condition deteriorated, which necessitated referral to university of Abuja Teaching Hospital where she eventually died after a day of admission.Conclusion: Paediatric AIDSrelated KS is becoming increasingly common in Nigeria and as such, high index of suspicion is required while evaluating pediatric patients. This, coupled with early commencement of HAART is required to avert the pitfalls observed in this case; bearing in mind that childhood AIDSrelated KS is lethal.Keywords: Generalized lymphadenopathy; Kaposi’s sarcoma; Missed opportunity; Paediatric AIDS; Skin rashes