Antenatal diagnosis of Down syndrome: how good is state of the art.

A newborn with Down syndrome can be expected once in a thousand deliveries. Amniocentesis for karyotyping of foetal cells or detection of foetal cell in the maternal circulation ie, fluorescent in-situ hybridisation (FISH) and karyotyping, are definitive methods of making the diagnosis antenatally. The cost of doing this routinely in all pregnancies is prohibitive. This has led to dependence on screening tests, to select women more likely to be carrying a Down foetus, to offer karyotyping in a more cost efficient manner. Unfortunately, these screening criteria, namely maternal age, biochemical markers and ultrasound pointers, are rather insensitive and miss a large number of cases of Down syndrome. At the same time they are very non-specific, picking up a large number of false positive cases, resulting in undue anxiety and unnecessary alarm in a large number of mothers. Till a non-invasive, definitive test, like FISH can be routinely used in all pregnancies at affordable costs, accurate antenatal diagnosis on a community basis will be a hit and miss affair.

Refractive status at birth: its relation to newborn physical parameters at birth and gestational age.

BACKGROUND: Refractive status at birth is related to gestational age. Preterm babies have myopia which decreases as gestational age increases and term babies are known to be hypermetropic. This study looked at the correlation of refractive status with birth weight in term and preterm babies, and with physical indicators of intra-uterine growth such as the head circumference and length of the baby at birth. METHODS: All babies delivered at St. Stephens Hospital and admitted in the nursery were eligible for the study. Refraction was performed within the first week of life. 0.8% tropicamide with 0.5% phenylephrine was used to achieve cycloplegia and paralysis of accommodation. 599 newborn babies participated in the study. Data pertaining to the right eye is utilized for all the analyses except that for anisometropia where the two eyes were compared. Growth parameters were measured soon after birth. Simple linear regression analysis was performed to see the association of refractive status, (mean spherical equivalent (MSE), astigmatism and anisometropia) with each of the study variables, namely gestation, length, weight and head circumference. Subsequently, multiple linear regression was carried out to identify the independent predictors for each of the outcome parameters. RESULTS: Simple linear regression showed a significant relation between all 4 study variables and refractive error but in multiple regression only gestational age and weight were related to refractive error. The partial correlation of weight with MSE adjusted for gestation was 0.28 and that of gestation with MSE adjusted for weight was 0.10. Birth weight had a higher correlation to MSE than gestational age. CONCLUSION: This is the first study to look at refractive error against all these growth parameters, in preterm and term babies at birth. It would appear from this study that birth weight rather than gestation should be used as criteria for screening for refractive error, especially in developing countries where the incidence of intrauterine malnutrition is higher.

Missing girls in India: infanticide, feticide and made-to-order pregnancies? Insights from hospital-based sex-ratio-at-birth over the last century.

BACKGROUND: There are 44 million missing women in India. Gender bias; neglect of girls, infanticides and feticides are responsible. The sex ratio at birth can be used to examine the influence of antenatal sex selection on the sex ratio. MATERIALS AND METHODS: Records from 321,991 deliveries at one hospital over 11 decades were utilized. The middle year in each decade was taken as representative of the decade. Data from 33,524 deliveries were then analyzed. Data for each decade was combined with that of previous decades and compared to the data of subsequent decades to look for any change in the trend. Sex ratio in the second children against sex of the first child was studied separately. RESULTS: The mean sex ratio for the 110 years examined was 910 girls to 1000 boys (95% CI; 891 to 930). The sex ratio dropped significantly from 935 (CI: 905 to 967) before 1979, to 892 (CI: 868 to 918) after 1980 (P = 0.04). The sex ratio in the second child was significantly lower if the first child was a girl [716 (CI: 672 to 762] (P<0.001). On the other hand, there was an excess of girls born to mothers whose first child was boy [1140 girls per 1000 boys (CI: 1072 to 1212 P<0.001)]. CONCLUSIONS: The sex ratio fell significantly after 1980 when ultra sound machines for antenatal sex determination became available. The sex ratio in second children if the first was a girl was even lower. Sex selective abortions after antenatal sex determination are thus implicated. However data on second children especially the excess of girls born to mothers who have a previous boy seen in the decade before the advent of antenatal ultra sound machines, suggests that other means of sex selection are also used.

Refractive error at birth and its relation to gestational age.

PURPOSE: The refractive status of premature infants is not well studied. This study was done to find the norms of refractive error in newborns at different gestational ages. METHODS: One thousand two hundred three (1203) eyes were examined for refractive error by streak retinoscopy within the first week of life between June 2001 and September 2002. Tropicamide eye drops (0.8%) with phenylephrine 0.5% were used to achieve cycloplegia and mydriasis. The refractive error was measured in the vertical and horizontal meridia in both eyes and was recorded to the nearest dioptre (D). The neonates were grouped in five gestational age groups ranging from 24 weeks to 43 weeks. RESULTS: Extremely preterm babies were found to be myopic with a mean MSE (mean spherical equivalent) of -4.86 D. The MSE was found to progressively decrease (become less myopic) with increasing gestation and was +2.4 D at term. Astigmatism of more than 1 D spherical equivalent was seen in 67.8% of the eyes examined. Among newborns with > 1 D of astigmatism, the astigmatism was with-the-rule (vertical meridian having greater refractive power than horizontal) in 85% and against-the-rule in 15%. Anisometropia of more than 1 D spherical equivalent was seen in 31% babies. CONCLUSIONS: Term babies are known to be hypermetropic, and preterm babies with retinopathy of prematurity (ROP) are known to have myopia. This study provides data on the mean spherical equivalent, the degree of astigmatism, and incidence of anisometropia at different gestational ages. This is the largest study in world literature looking at refractive errors at birth against gestational age. It should help understand the norms of refractive errors in preterm babies.