Birth Defects in Babies that Appear Perfectly Health

Each year over 7.9 Million babies are born with birth defects, most of which appear perfectly healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life.

Many countries run publicly funded programmes to screen newborns for inherited diseases.

Currently, all Hong Kong-born babies are screened for five common conditions including congenital hypothyroidism, cystic fibrosis, amino acid disorders including phenylketonuria, organic acidemias and fatty acid oxidation defects.

There are a growing number of conditions that could be considered for inclusion in newborn screening programmes and these include, among others, severe combined immunodeficiency and lysosomal storage disease.

This leaves thousands of newborns unscreened for any number of potentially manageable disorders and adverse drug reactions.

只是看起來很健康，但卻隱藏著缺陷

每年有超過790萬嬰兒出生時已有缺陷，其中大多數出生時看起來非常健康，來自沒有這種疾病史的家庭。 許多受影響的嬰兒直到後期出現嚴重及不可逆轉的症狀才被發現。

許多國家開展了公共資助計劃，以篩查新生兒的遺傳性疾病。

目前，所有在香港出生的嬰兒都接受了五種常見疾病的篩查，包括先天性甲狀腺功能減退症，囊性纖維化，氨基酸障礙，包括苯丙酮尿症，有機酸血症和脂肪酸氧化缺陷。

但更多的病症應該納入新生兒篩查計劃，其中包括嚴重的聯合免疫缺陷和溶酶體貯積病。這使得數以千計的新生兒未經過篩查，無法治療任何可能導致的疾病和藥物不良反應。

When is NOVA™ Genetic Test Suitable?

NOVA™ is suitable for newborns and children up to 5 years of age. NOVA™ Screens for 50 inherited disorders, which have a combined prevalence rate of 1/400 births. NOVA™ aims to achieve early detection, referral and treatment of all babies identified as high risk of these disorders.

Are you interested in this test? Why not view our  NOVA™ Post Natal Peace brochure?

Note: Your only additional cost will be the blood collection fee that should be arranged with the sample collector during your pathology appointment.

我們可以提供更全面的篩查方案

NOVA™適用於新生兒和5歲以下的兒童。 NOVA™篩查50種遺傳性疾病，其總患病率為1/400案。 NOVA™目標實現早期發現，轉診和治療所有被確定為這些疾病高風險的嬰兒。

你對這個測試感興趣嗎？ 為何不查看我們的NOVA™Post Natal Peace小冊子