Hi ! Nana ! -- is a place for『Hi』&『Nana』: 7月 2005

星期二, 7月 26, 2005

7/25 台北馬偕產檢

7月25日(星期一)進行第二十五週結束的第四次產檢。

本來以為此次超音波費用是健保給付，結果在批價時才被告知需自費。為此阿ju頗有微詞。

(尤其是批價處的歐巴桑以一付命令人的口氣說道「那本(指媽媽手冊)不需要! 收起來!」....#$%^&&^%$#@!)

第四次 (2005/07/25)

週數: 25週
體重: 76.7 Kg
血壓: 111/68

寶寶心跳: 140下(左右)/分鐘 ->護士隨口說的
寶寶體重: 963g (雖然超音波照上寫著864g)

檢查人員拿著超音波掃瞄器在隆起的肚皮上滑動著，為了照到寶寶所有角度，從肚子左側『咻-』地滑到右側，再從肚皮上方移動到下方(以上大部轉述自阿ju)。

總之清楚的照出寶寶的樣子，也確定寶寶一切正常。

【超音波照之一】

左圖是寶寶腦袋瓜上方; 右方白色長條則是寶寶大腿骨，骨長(FL)4.67cm。

其他一些測量數據還包括: 胎頭頂骨間徑(BPD)6.53cm、腹圍長度(AC)2.10cm等。

【超音波照之二】

左方清楚看見寶寶臉部輪廓與雙眼位置，中間偏右下方一點則是耳朵。右圖則顯示了寶寶脊椎長度。

比較意外的是，問診時醫師首先表示寶寶的第九對染色體有反轉現象，繼而說明不用太擔心，因為此反轉並不會造成任何顯性問題。

於是上網路查了一下相關資訊，此種『正常的變異』竟佔人口比例1~3%之多。

其中有位醫師引據了下方文獻來說明此現象:

Pericentric inversion of the chromosome 9, inv(9)(p11q13), is such a common occurrence that some cytogeneticists would consider them as normal variants.

The incidence is said to be about 1% to 1.65% in the general population.

Despite being categorised as a minor chromosomal rearrangement which does not correlate with abnormal phenotypes, many reports in the literature raised conflicting views regarding the association with subfertility and recurrent abortions, abnormal clinical conditions, as well as chromosomal abnormalities arising as a result of having this inversion.

We studied the incidence and clinical significance of inv(9)(p11q13) patients retrospectively from 2448 antenatal cytogenetic analysis and 1058 peripheral blood karyotype collected over a 3-year period.

Thirty cases of inv(9)(p11q13) from 29 families were found from the antenatal group, which gave an incidence of 1.2% and 6 cases from the peripheral blood karyotype analysis (incidence of 0.6%).

The parental origin of the inv(9)(p11q13) in the antenatal group was of equal proportion and there was also no sex predilection for the fetuses carrying the inversion.

The babies with the inversion were born with no phenotypic abnormalities. The 6 cases picked up from the peripheral blood karyotype analysis were 2 cases of paediatric patients with associated chromosomal abnormalities (one Trisomy 21 and the other del 13(q22q32)) and 4 adult patients with obstetric and fertility problems.

The incidence of subfertility (36%) appeared to be high amongst the adult patients with inv(9)(p11q13).

This may represent a true reflection of subfertility in inv(9)(p11q13) patients or a selective bias towards the older subfertile women who conceive at a later age and thus utilising the antenatal diagnostic setup.

Ann Acad Med Singapore. 1995 Mar;24(2):302-4. Pericentric inversion 9--incidence and clinical significance. Teo SH, Tan M, Knight L, Yeo SH, Ng I.

於是查起這些專業醫療術語...

依照文獻說法，應該不需擔心此現象。不過等馬偕遺傳醫學主治回來上班後，還是得掛號與醫師當面請教一番才是。

「他該不會是一個智商超高的天才吧?」車上我這樣問著阿ju。

「你願意她是個天才嗎?」

我想起了早上剛看到的新聞...「欸......寧願她是個普通的、快樂的善良孩子就好。」

永久連結 posted by Juno @ 4:54 下午 0 comments